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PubMed · 42372627

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

David Pellerin·Adriana Rebelo·Mohammad Faraz Zafeer·Pablo Iruzubieta·Dilsad Türkdogan·Natalia Smolina·Şeyma Tekgül·Meghan Ditmeyer·Liedewei Van de Vondel·Yasmani Rodriguez·Elizabeth H Jacobs·Tuğçe Gül-Demirkale·Ahmet Yesilyurt·Marie-Josée Dicaire·Matt C Danzi·Bernard Brais·Marek Napierala·Ayşe Nazlı Başak·Stephan Zuchner
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Abstract

Spinocerebellar 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.

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HumansInduced Pluripotent Stem CellsFibroblast Growth FactorsSpinocerebellar AtaxiasCell LineCell DifferentiationMaleSpinocerebellar DegenerationsFGF14SCA27ASCA27BiPSCJournal Article

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David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, Pablo Iruzubieta, Dilsad Türkdogan, Natalia Smolina, Şeyma Tekgül, Meghan Ditmeyer, Liedewei Van de Vondel, Yasmani Rodriguez, Elizabeth H Jacobs, Tuğçe Gül-Demirkale, Ahmet Yesilyurt, Marie-Josée Dicaire, Matt C Danzi, Bernard Brais, Marek Napierala, Ayşe Nazlı Başak, Stephan Zuchner. 2026-06-27. Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A).. https://doi.org/10.1016/j.scr.2026.104050

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