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Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)

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dc.contributor.coauthorPellerin, D.
dc.contributor.coauthorRebelo, A.
dc.contributor.coauthorZafeer, M. F.
dc.contributor.coauthorIruzubieta, P.
dc.contributor.coauthorTürkdogan, D.
dc.contributor.coauthorDitmeyer, M.
dc.contributor.coauthorVan de Vondel, L.
dc.contributor.coauthorRodriguez, Y.
dc.contributor.coauthorJacobs, E. H.
dc.contributor.coauthorYesilyurt, A.
dc.contributor.coauthorDicaire, M. J.
dc.contributor.coauthorDanzi, M. C.
dc.contributor.coauthorBrais, B.
dc.contributor.coauthorNapierala, M.
dc.contributor.coauthorZuchner, S.
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentKUTTAM (Koç University Research Center for Translational Medicine)
dc.contributor.departmentNDAL (Neurodegeneration Research Laboratory)
dc.contributor.kuauthorSmolina, Natalia
dc.contributor.kuauthorTekgül, Şeyma
dc.contributor.kuauthorGül, Tuğçe
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.contributor.schoolcollegeinstituteResearch Center
dc.contributor.schoolcollegeinstituteLaboratory
dc.date.accessioned2026-07-19T19:48:58Z
dc.date.issued2026
dc.description.abstractSpinocerebellar ataxia 27A (SCA27A) is a rare inherited ataxia arising from heterozygous pathogenic loss-of-function variants in FGF14. Autosomal recessive FGF14-related cerebellar ataxia has also been reported in a single individual to date. Here, we describe the generation and characterization of human induced pluripotent stem cell (iPSC) lines derived from two individuals with FGF14-related ataxia (ATX-FGF14): one with SCA27A and one with autosomal recessive disease. Given the predominantly neuronal expression of FGF14, these iPSC lines represent a valuable resource for investigating the cellular and molecular consequences of FGF14 deficiency in disease-relevant neuronal populations following directed differentiation.
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipThe authors thank the patients for their contribution to this study. The Neurodegeneration Research Laboratory NDAL gratefully acknowledges the use of the services and facilities of Koc University Research Center for Translational Medicine. We would also like to extend our sincere gratitude to Suna and Inan K & imath;rac Foundation for its generous support of the study. D.P. holds a Fellowship award from the Canadian Institutes of Health Research. L.VdV. is supported by the PNS Laura Feltri Basic Research Training Grant. This study was supported by the National Ataxia Foundation (to S.Z.) and Ataxia UK (to S.Z.).
dc.description.versionPublished Version
dc.identifier.ScopusPercentile49
dc.identifier.ScopusQuartileQ3
dc.identifier.WoSPercentile4.7
dc.identifier.WoSQuartileQ4
dc.identifier.doi10.1016/j.scr.2026.104050
dc.identifier.eissn1876-7753
dc.identifier.embargoN/A
dc.identifier.issn1873-5061
dc.identifier.pubmed42372627
dc.identifier.scopus2-s2.0-105042849879
dc.identifier.urihttp://doi.org/10.1016/j.scr.2026.104050
dc.identifier.urihttps://hdl.handle.net/20.500.14288/33581
dc.identifier.volume95
dc.identifier.wos001814697100001
dc.keywordsFGF14
dc.keywordsSCA27B
dc.keywordsSCA27A
dc.keywordsiPSC
dc.languageeng
dc.publisherElsevier
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofStem Cell Research
dc.relation.openaccessN/A
dc.rightsN/A
dc.rights.uriN/A
dc.subjectCell biology
dc.subjectBiotechnology
dc.titleEstablishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)
dc.typeJournal Article
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