Generation of Friedreich’s ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation

Friedreich’s ataxia (FRDA) is a multisystem, autosomal recessive disease caused by biallelic expansion of GAA repeats in intron 1 of the frataxin gene (FXN). While ∼96% of FRDA patients carry expanded GAA repeats on both FXN alleles, ∼4% are compound heterozygous with expanded GAA repeats on one all...

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Detalhes bibliográficos

Principais autores:	Pouiré Yameogo, Brandon J. Gerhart, Monica F. Sentmanat, Amber Neilson, Xiaoxia Cui, Mayank Verma, David R. Lynch, Jill S. Napierala, Marek Napierala
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2026-06-01
coleção:	Stem Cell Research
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1873506126000620
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