{"id":"https://openalex.org/W4360977181","doi":"https://doi.org/10.1016/j.scr.2023.103083","title":"Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A","display_name":"Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A","publication_year":2023,"publication_date":"2023-03-26","ids":{"openalex":"https://openalex.org/W4360977181","doi":"https://doi.org/10.1016/j.scr.2023.103083","pmid":"https://pubmed.ncbi.nlm.nih.gov/37003180"},"language":"en","primary_location":{"id":"doi:10.1016/j.scr.2023.103083","doi":"https://doi.org/10.1016/j.scr.2023.103083","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.scr.2023.103083","pdf_url":null,"source":{"id":"https://openalex.org/S81007815","display_name":"Stem Cell Research","issn_l":"1873-5061","issn":["1873-5061","1876-7753"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Stem Cell Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.scr.2023.103083","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Akshata A Almad","orcid":"https://orcid.org/0000-0001-6603-2564","observed_orcids":["https://orcid.org/0000-0001-6603-2564"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Akshata A Almad","raw_affiliation_strings":["Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States"],"raw_orcid":"https://orcid.org/0000-0001-6603-2564","affiliations":[{"raw_affiliation_string":"Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045662909","display_name":"Luis Garcia","orcid":"https://orcid.org/0000-0002-8856-3734","observed_orcids":["https://orcid.org/0000-0002-8856-3734"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luis Garcia","raw_affiliation_strings":["Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States"],"raw_orcid":"https://orcid.org/0000-0002-8856-3734","affiliations":[{"raw_affiliation_string":"Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027257387","display_name":"Asako Takanohashi","orcid":"https://orcid.org/0000-0003-3292-1595","observed_orcids":["https://orcid.org/0000-0003-3292-1595"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Asako Takanohashi","raw_affiliation_strings":["Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States"],"raw_orcid":"https://orcid.org/0000-0003-3292-1595","affiliations":[{"raw_affiliation_string":"Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076822095","display_name":"Alyssa L. Gagne","orcid":"https://orcid.org/0000-0002-5636-4618","observed_orcids":["https://orcid.org/0000-0002-5636-4618"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alyssa Gagne","raw_affiliation_strings":["Penn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States"],"raw_orcid":"https://orcid.org/0000-0002-5636-4618","affiliations":[{"raw_affiliation_string":"Penn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087046731","display_name":"Wenli Yang","orcid":"https://orcid.org/0000-0002-1873-2336","observed_orcids":["https://orcid.org/0000-0002-1873-2336"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wenli Yang","raw_affiliation_strings":["Penn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States"],"raw_orcid":"https://orcid.org/0000-0002-1873-2336","affiliations":[{"raw_affiliation_string":"Penn Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055017376","display_name":"Jean Ann McGuire","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jean Ann McGuire","raw_affiliation_strings":["Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003906542","display_name":"Deborah L. French","orcid":"https://orcid.org/0000-0002-7535-1716","observed_orcids":["https://orcid.org/0000-0002-7535-1716"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Deborah French","raw_affiliation_strings":["Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013089390","display_name":"Adeline L. Vanderver","orcid":"https://orcid.org/0000-0002-6290-6751","observed_orcids":["https://orcid.org/0000-0002-6290-6751"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Adeline Vanderver","raw_affiliation_strings":["Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5013089390"],"corresponding_institution_ids":["https://openalex.org/I1335321130"],"apc_list":{"value":2210,"currency":"USD","value_usd":2210},"apc_paid":{"value":2210,"currency":"USD","value_usd":2210},"fwci":0.1774,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.36240643,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"69","issue":null,"first_page":"103083","last_page":"103083"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.9994999766349792,"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":0.9994999766349792,"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/T10608","display_name":"Neurogenesis and neuroplasticity mechanisms","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10137","display_name":"Multiple Sclerosis Research Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/induced-pluripotent-stem-cells","display_name":"induced pluripotent stem cells","score":0.9269999861717224},{"id":"https://openalex.org/keywords/tubb4a","display_name":"TUBB4A","score":0.9290000200271606},{"id":"https://openalex.org/keywords/leukodystrophy","display_name":"leukodystrophy","score":0.9409999847412109},{"id":"https://openalex.org/keywords/disease-modeling","display_name":"disease modeling","score":0.8059999942779541},{"id":"https://openalex.org/keywords/peripheral-blood-mononuclear-cells","display_name":"peripheral blood mononuclear cells","score":0.8259999752044678},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.9419999718666077},{"id":"https://openalex.org/keywords/trilineage-differentiation","display_name":"trilineage differentiation","score":0.796999990940094},{"id":"https://openalex.org/keywords/autosomal-dominant-mutations","display_name":"autosomal dominant mutations","score":0.7450000047683716}],"concepts":[{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.8564862012863159},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8469626903533936},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.61849445104599},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5620978474617004},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.5444260239601135},{"id":"https://openalex.org/C2778187257","wikidata":"https://www.wikidata.org/wiki/Q464210","display_name":"Basal ganglia","level":3,"score":0.5340005159378052},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.4432831406593323},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.410489946603775},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.36309999227523804},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.34455522894859314},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.24906820058822632},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23148813843727112},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.18354558944702148},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.05046987533569336},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.04900917410850525}],"mesh":[{"descriptor_ui":"D001284","descriptor_name":"Atrophy","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001479","descriptor_name":"Basal Ganglia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001479","descriptor_name":"Basal Ganglia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007963","descriptor_name":"Leukocytes, Mononuclear","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D057026","descriptor_name":"Induced Pluripotent Stem Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.scr.2023.103083","doi":"https://doi.org/10.1016/j.scr.2023.103083","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.scr.2023.103083","pdf_url":null,"source":{"id":"https://openalex.org/S81007815","display_name":"Stem Cell Research","issn_l":"1873-5061","issn":["1873-5061","1876-7753"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Stem Cell Research","raw_type":"journal-article"},{"id":"pmid:37003180","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37003180","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Stem cell research","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:4648d8f1fb194af09169591eaa585419","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/4648d8f1fb194af09169591eaa585419","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Stem Cell Research, Vol 69, Iss , Pp 103083- (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.scr.2023.103083","doi":"https://doi.org/10.1016/j.scr.2023.103083","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.scr.2023.103083","pdf_url":null,"source":{"id":"https://openalex.org/S81007815","display_name":"Stem Cell Research","issn_l":"1873-5061","issn":["1873-5061","1876-7753"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Stem Cell Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F2901840111","display_name":"Pennsylvania Department of Labor and Industry","ror":"https://ror.org/05c8v5d10"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W1964528572","https://openalex.org/W1984067392","https://openalex.org/W2108640920","https://openalex.org/W2752005215"],"related_works":["https://openalex.org/W7169675328","https://openalex.org/W7197018408","https://openalex.org/W4389440823","https://openalex.org/W2177292409","https://openalex.org/W2044720131","https://openalex.org/W1981274347","https://openalex.org/W2741751732","https://openalex.org/W2752005215","https://openalex.org/W3030337347","https://openalex.org/W1984067392"],"abstract_inverted_index":{"Mutations":[0],"in":[1,7],"tubulin":[2],"alpha":[3],"4a":[4],"(TUBB4A)":[5],"result":[6],"a":[8,24,78],"spectrum":[9],"of":[10,16,40,44,67,97],"leukodystrophies,":[11],"including":[12],"Hypomyelination":[13],"with":[14,31,69],"atrophy":[15],"basal":[17],"ganglia":[18],"and":[19,34,37,42,46,61,82,95],"cerebellum":[20],"(H-ABC),":[21],"resulting":[22],"from":[23,59],"recurring":[25],"mutation":[26],"p.Asp249Asn":[27],"(TUBB4AD249N).":[28],"H-ABC":[29],"presents":[30],"dystonia,":[32],"motor":[33],"cognitive":[35],"impairment":[36],"pathological":[38],"features":[39],"hypomyelination":[41],"loss":[43],"cerebellar":[45],"striatal":[47],"neurons.":[48],"We":[49],"have":[50],"generated":[51],"three":[52],"induced":[53],"pluripotent":[54],"stem":[55],"cell":[56],"(iPSC)":[57],"lines":[58],"fibroblast":[60],"peripheral":[62],"blood":[63],"mononuclear":[64],"cells":[65],"(PBMCs)":[66],"individuals":[68],"TUBB4AD249N":[70],"mutation.":[71],"The":[72,86],"iPSCs":[73,87],"were":[74],"assessed":[75],"to":[76],"confirm":[77],"normal":[79],"karyotype,":[80],"pluripotency,":[81],"trilineage":[83],"differentiation":[84],"potential.":[85],"will":[88],"allow":[89],"for":[90],"disease":[91],"modeling,":[92],"understanding":[93],"mechanisms":[94],"testing":[96],"therapeutic":[98],"targets.":[99]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2023-03-30T00:00:00"}