Publication: Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)
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KU Authors
Co-Authors
Pellerin, D.
Rebelo, A.
Zafeer, M. F.
Iruzubieta, P.
TĆ¼rkdogan, D.
Ditmeyer, M.
Van de Vondel, L.
Rodriguez, Y.
Jacobs, E. H.
Yesilyurt, A.
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Language
eng
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N/A
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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.
Source
Publisher
Elsevier
Subject
Cell biology, Biotechnology
Citation
Has Part
Source
Stem Cell Research
Book Series Title
Edition
DOI
10.1016/j.scr.2026.104050
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