{"id":"https://openalex.org/W7225817967","doi":"https://doi.org/10.3389/fphar.2026.1927604","title":"Derivation and characterization of a patient-derived hiPSC line carrying the HCN2 p.G460D variant with neuronal and cardiac differentiation potential","display_name":"Derivation and characterization of a patient-derived hiPSC line carrying the HCN2 p.G460D variant with neuronal and cardiac differentiation potential","publication_year":2026,"publication_date":"2026-11-11","ids":{"openalex":"https://openalex.org/W7225817967","doi":"https://doi.org/10.3389/fphar.2026.1927604"},"language":"en","primary_location":{"id":"doi:10.3389/fphar.2026.1927604","doi":"https://doi.org/10.3389/fphar.2026.1927604","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fphar.2026.1927604","pdf_url":null,"source":{"id":"https://openalex.org/S132108250","display_name":"Frontiers in Pharmacology","issn_l":"1663-9812","issn":["1663-9812"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pharmacology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3389/fphar.2026.1927604","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006529052","display_name":"Serena Calamaio","orcid":"https://orcid.org/0000-0002-6616-1005","observed_orcids":["https://orcid.org/0000-0002-6616-1005"]},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Serena Calamaio","raw_affiliation_strings":["School of Medicine and Surgery, University of Milano-Bicocca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine and Surgery, University of Milano-Bicocca","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064846641","display_name":"Rachele Prevostini","orcid":"https://orcid.org/0009-0005-8238-4443","observed_orcids":["https://orcid.org/0009-0005-8238-4443"]},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Rachele Prevostini","raw_affiliation_strings":["School of Medicine and Surgery, University of Milano-Bicocca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine and Surgery, University of Milano-Bicocca","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077231435","display_name":"Serena Redaelli","orcid":"https://orcid.org/0000-0003-0415-4085","observed_orcids":["https://orcid.org/0000-0003-0415-4085"]},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Serena Redaelli","raw_affiliation_strings":["School of Medicine and Surgery, University of Milano-Bicocca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine and Surgery, University of Milano-Bicocca","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020118294","display_name":"Marco Villa","orcid":"https://orcid.org/0000-0001-5300-1590","observed_orcids":["https://orcid.org/0000-0001-5300-1590"]},"institutions":[{"id":"https://openalex.org/I4210099239","display_name":"IRCCS Policlinico San Donato","ror":"https://ror.org/01220jp31","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210099239","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marco Villa","raw_affiliation_strings":["IMTC Institute of Molecular and Translational Cardiology, IRCCS Policlinico San Donato"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IMTC Institute of Molecular and Translational Cardiology, IRCCS Policlinico San Donato","institution_ids":["https://openalex.org/I4210099239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033548247","display_name":"Ginetta Collo","orcid":"https://orcid.org/0000-0003-1888-5049","observed_orcids":["https://orcid.org/0000-0003-1888-5049"]},"institutions":[{"id":"https://openalex.org/I79940851","display_name":"University of Brescia","ror":"https://ror.org/02q2d2610","country_code":"IT","type":"education","lineage":["https://openalex.org/I79940851"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ginetta Collo","raw_affiliation_strings":["Department of Molecular and Translational Medicine, University of Brescia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Translational Medicine, University of Brescia","institution_ids":["https://openalex.org/I79940851"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070761135","display_name":"Laura Cavalleri","orcid":"https://orcid.org/0000-0002-0072-9550","observed_orcids":["https://orcid.org/0000-0002-0072-9550"]},"institutions":[{"id":"https://openalex.org/I79940851","display_name":"University of Brescia","ror":"https://ror.org/02q2d2610","country_code":"IT","type":"education","lineage":["https://openalex.org/I79940851"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Laura Cavalleri","raw_affiliation_strings":["Department of Molecular and Translational Medicine, University of Brescia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Translational Medicine, University of Brescia","institution_ids":["https://openalex.org/I79940851"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036746185","display_name":"Angela Bentivegna","orcid":"https://orcid.org/0000-0001-7535-846X","observed_orcids":["https://orcid.org/0000-0001-7535-846X"]},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Angela Bentivegna","raw_affiliation_strings":["SC Genetica Medica, Fondazione IRCCS San Gerardo Dei Tintori","School of Medicine and Surgery, University of Milano-Bicocca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SC Genetica Medica, Fondazione IRCCS San Gerardo Dei Tintori","institution_ids":[]},{"raw_affiliation_string":"School of Medicine and Surgery, University of Milano-Bicocca","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013776228","display_name":"Francesca Ragona","orcid":"https://orcid.org/0000-0003-1399-8271","observed_orcids":["https://orcid.org/0000-0003-1399-8271"]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Ragona","raw_affiliation_strings":["Department of Paediatric Neuroscience, European Reference Network EPIcare Fondazione IRCCS Istituto Neurologico Carlo Besta"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neuroscience, European Reference Network EPIcare Fondazione IRCCS Istituto Neurologico Carlo Besta","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052634729","display_name":"Barbara Castellotti","orcid":"https://orcid.org/0000-0002-9098-3041","observed_orcids":["https://orcid.org/0000-0002-9098-3041"]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Barbara Castellotti","raw_affiliation_strings":["Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027362336","display_name":"Jacopo Cosimo DiFrancesco","orcid":"https://orcid.org/0000-0002-4102-1188","observed_orcids":["https://orcid.org/0000-0002-4102-1188"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Jacopo C. DiFrancesco","raw_affiliation_strings":["Department of Neurology, Fondazione IRCCS San Gerardo Dei Tintori"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Fondazione IRCCS San Gerardo Dei Tintori","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060024119","display_name":"Ilaria Rivolta","orcid":"https://orcid.org/0000-0002-7411-9069","observed_orcids":["https://orcid.org/0000-0002-7411-9069"]},"institutions":[{"id":"https://openalex.org/I4210099239","display_name":"IRCCS Policlinico San Donato","ror":"https://ror.org/01220jp31","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210099239","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ilaria Rivolta","raw_affiliation_strings":["IMTC Institute of Molecular and Translational Cardiology, IRCCS Policlinico San Donato","School of Medicine and Surgery, University of Milano-Bicocca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IMTC Institute of Molecular and Translational Cardiology, IRCCS Policlinico San Donato","institution_ids":["https://openalex.org/I4210099239"]},{"raw_affiliation_string":"School of Medicine and Surgery, University of Milano-Bicocca","institution_ids":["https://openalex.org/I66752286"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5027362336"],"corresponding_institution_ids":[],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[],"concepts":[{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.7613999843597412},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.6520000100135803},{"id":"https://openalex.org/C77255625","wikidata":"https://www.wikidata.org/wiki/Q402093","display_name":"Reprogramming","level":3,"score":0.6395999789237976},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5242999792098999},{"id":"https://openalex.org/C2780648746","wikidata":"https://www.wikidata.org/wiki/Q28208871","display_name":"Glutamatergic","level":4,"score":0.44830000400543213},{"id":"https://openalex.org/C16613235","wikidata":"https://www.wikidata.org/wiki/Q285982","display_name":"Endogeny","level":2,"score":0.4018000066280365},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.40130001306533813},{"id":"https://openalex.org/C148738053","wikidata":"https://www.wikidata.org/wiki/Q210861","display_name":"Cellular differentiation","level":3,"score":0.39570000767707825},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.37630000710487366},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.36500000953674316},{"id":"https://openalex.org/C32470452","wikidata":"https://www.wikidata.org/wiki/Q2298489","display_name":"Viral vector","level":4,"score":0.36149999499320984},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.3084999918937683},{"id":"https://openalex.org/C2776817793","wikidata":"https://www.wikidata.org/wiki/Q6553369","display_name":"Lineage (genetic)","level":3,"score":0.2946999967098236},{"id":"https://openalex.org/C10854531","wikidata":"https://www.wikidata.org/wiki/Q1061415","display_name":"Regenerative medicine","level":3,"score":0.29409998655319214},{"id":"https://openalex.org/C124964019","wikidata":"https://www.wikidata.org/wiki/Q11616062","display_name":"Precursor cell","level":3,"score":0.29330000281333923},{"id":"https://openalex.org/C81885089","wikidata":"https://www.wikidata.org/wiki/Q189082","display_name":"Cell culture","level":2,"score":0.2867000102996826},{"id":"https://openalex.org/C2778996579","wikidata":"https://www.wikidata.org/wiki/Q10334846","display_name":"Cardiac muscle","level":2,"score":0.2867000102996826},{"id":"https://openalex.org/C136834591","wikidata":"https://www.wikidata.org/wiki/Q2944097","display_name":"Neural stem cell","level":3,"score":0.274399995803833},{"id":"https://openalex.org/C2777670902","wikidata":"https://www.wikidata.org/wiki/Q492038","display_name":"Human brain","level":2,"score":0.2680000066757202},{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.26190000772476196},{"id":"https://openalex.org/C141516989","wikidata":"https://www.wikidata.org/wiki/Q1182555","display_name":"Default mode network","level":3,"score":0.26019999384880066},{"id":"https://openalex.org/C2779703243","wikidata":"https://www.wikidata.org/wiki/Q653924","display_name":"Long QT syndrome","level":3,"score":0.25929999351501465},{"id":"https://openalex.org/C92087593","wikidata":"https://www.wikidata.org/wiki/Q427389","display_name":"Vector (molecular biology)","level":4,"score":0.25699999928474426},{"id":"https://openalex.org/C190712762","wikidata":"https://www.wikidata.org/wiki/Q18031341","display_name":"Ryanodine receptor 2","level":4,"score":0.2567000091075897},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.2558000087738037},{"id":"https://openalex.org/C57236427","wikidata":"https://www.wikidata.org/wiki/Q5382987","display_name":"Epileptogenesis","level":3,"score":0.25209999084472656},{"id":"https://openalex.org/C189014844","wikidata":"https://www.wikidata.org/wiki/Q189118","display_name":"Cell type","level":3,"score":0.25200000405311584},{"id":"https://openalex.org/C74254510","wikidata":"https://www.wikidata.org/wiki/Q7240508","display_name":"Premovement neuronal activity","level":2,"score":0.25099998712539673},{"id":"https://openalex.org/C2988455589","wikidata":"https://www.wikidata.org/wiki/Q189331","display_name":"Cardiac arrhythmia","level":3,"score":0.2508000135421753}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3389/fphar.2026.1927604","doi":"https://doi.org/10.3389/fphar.2026.1927604","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fphar.2026.1927604","pdf_url":null,"source":{"id":"https://openalex.org/S132108250","display_name":"Frontiers in Pharmacology","issn_l":"1663-9812","issn":["1663-9812"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pharmacology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3389/fphar.2026.1927604","doi":"https://doi.org/10.3389/fphar.2026.1927604","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fphar.2026.1927604","pdf_url":null,"source":{"id":"https://openalex.org/S132108250","display_name":"Frontiers in Pharmacology","issn_l":"1663-9812","issn":["1663-9812"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pharmacology","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1549808427","https://openalex.org/W1980226003","https://openalex.org/W1999319818","https://openalex.org/W2004754041","https://openalex.org/W2020830106","https://openalex.org/W2036743808","https://openalex.org/W2050304290","https://openalex.org/W2080512618","https://openalex.org/W2082314612","https://openalex.org/W2157152005","https://openalex.org/W2161628727","https://openalex.org/W2171502806","https://openalex.org/W2173794755","https://openalex.org/W2605838196","https://openalex.org/W2766563069","https://openalex.org/W3024255267","https://openalex.org/W3123770358","https://openalex.org/W4280612854","https://openalex.org/W4281725679","https://openalex.org/W4291019249","https://openalex.org/W4306810800","https://openalex.org/W4387002047","https://openalex.org/W4401107416","https://openalex.org/W4402284009","https://openalex.org/W4404566937","https://openalex.org/W4410529711","https://openalex.org/W4411073801","https://openalex.org/W7163738241"],"related_works":[],"abstract_inverted_index":{"Background":[0],"Pathogenic":[1],"variants":[2],"in":[3,29,269,327],"HCN2":[4,26,68,105,146,182,252,290,328],",":[5,208,210,212,215,234,237],"encoding":[6],"the":[7,31,52,60,71,104,122,180,262,282,305],"hyperpolarization-activated":[8],"cyclic":[9],"nucleotide-gated":[10],"channel":[11],"2,":[12],"have":[13],"recently":[14],"emerged":[15],"as":[16],"a":[17,97,175,187,266,288,310],"cause":[18],"of":[19,54,62,67,73,96,111,121,261,323],"developmental":[20],"and":[21,34,44,48,64,70,119,134,137,144,152,162,195,213,223,238,244,272,301,320],"epileptic":[22],"encephalopathies":[23],"(DEEs).":[24],"Because":[25],"is":[27],"expressed":[28],"both":[30,46,299],"central":[32],"nervous":[33],"cardiovascular":[35],"systems,":[36],"disease":[37],"mechanisms":[38],"may":[39],"extend":[40],"beyond":[41],"neuronal":[42,47,300],"dysfunction":[43,69],"involve":[45],"cardiac":[49,138,227,302],"tissues.":[50],"However,":[51],"lack":[53],"patient-specific":[55],"human":[56,79],"models":[57],"has":[58],"limited":[59],"investigation":[61],"tissue-specific":[63],"shared":[65],"consequences":[66],"development":[72],"targeted":[74],"therapeutic":[75,325],"approaches.":[76],"Methods":[77],"A":[78],"induced":[80],"pluripotent":[81],"stem":[82],"cell":[83],"(hiPSC)":[84],"line":[85,178],"was":[86],"generated":[87],"via":[88],"non-integrating":[89],"Sendai":[90],"viral":[91],"vectors":[92],"from":[93,304],"dermal":[94],"fibroblasts":[95],"patient":[98,176],"with":[99,186,240,293],"severe":[100],"drug-resistant":[101],"DEE":[102],"carrying":[103,179,287],"c.1379G>A":[106],"(p.G460D)":[107],"variant.":[108],"Following":[109],"validation":[110],"genomic":[112],"integrity,":[113],"vector":[114,191],"clearance,":[115,192],"pluripotency,":[116,194],"trilineage":[117,197],"potential,":[118],"retention":[120,147],"disease-causing":[123],"variant,":[124],"hiPSCs":[125],"were":[126,148,166],"subjected":[127],"to":[128,297],"directed":[129],"differentiation":[130,200,228],"toward":[131],"cortical":[132,204],"neurons":[133,205],"cardiomyocytes.":[135],"Neuronal":[136],"lineage":[139],"specification,":[140],"subtype":[141],"marker":[142],"profiles,":[143],"endogenous":[145,251],"assessed":[149],"by":[150],"RT-qPCR":[151],"immunofluorescence.":[153],"In":[154,225],"cardiomyocyte":[155],"monolayers,":[156],"functional":[157,230,259,318],"beating":[158,263],"kinetics,":[159],"rhythm":[160,270],"stability,":[161],"spatial":[163,274],"electromechanical":[164,275],"coupling":[165,276],"quantified":[167],"using":[168],"video-based":[169],"motion":[170],"tracking.":[171],"Results":[172],"Reprogramming":[173],"established":[174,281],"hiPSC":[177,285],"heterozygous":[181],"p.":[183],"G460D":[184],"variant":[185,291],"stable":[188],"46,XX":[189],"karyotype,":[190],"robust":[193],"verified":[196],"potential.":[198],"Directed":[199],"yielded":[201],"deep-layer":[202],"glutamatergic":[203],"expressing":[206,232],"FOXG1":[207],"MAP2":[209],"BCL11B":[211],"SLC17A7":[214],"forming":[216],"extensive":[217],"networks":[218],"positive":[219],"for":[220],"TUBB3,":[221],"MAP2,":[222],"NeuN.":[224],"parallel,":[226],"produced":[229],"cardiomyocytes":[231],"TNNT2":[233],"M":[235],"YH6":[236],"MYH7":[239],"organized":[241],"cTnT,":[242],"ACTN2,":[243],"RYR2":[245],"sarcomeric":[246],"structures.":[247],"Both":[248],"lineages":[249,303],"retained":[250],"expression.":[253],"Video":[254],"kinematic":[255],"profiling":[256],"demonstrated":[257],"progressive":[258],"maturation":[260],"cardiomyocytes,":[264],"showing":[265],"59.1%":[267],"reduction":[268],"variability":[271],"enhanced":[273],"over":[277],"time.":[278],"Conclusion":[279],"We":[280],"first":[283],"patient-derived":[284],"platform":[286],"pathogenic":[289],"associated":[292],"DEE.":[294],"The":[295],"ability":[296],"generate":[298],"same":[306],"genetic":[307],"background":[308],"provides":[309],"valuable":[311],"translational":[312],"resource":[313],"future":[314],"mechanistic":[315],"studies,":[316],"cell-type-specific":[317],"comparisons,":[319],"exploratory":[321],"evaluation":[322],"potential":[324],"approaches":[326],"-related":[329],"channelopathies.":[330]},"counts_by_year":[],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-11-12T00:00:00"}