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Article

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

Stem cell research - 1 Jun 2026

Yameogo Pouiré, Gerhart Brandon J, Sentmanat Monica F, Neilson Amber, Cui Xiaoxia, Verma Mayank, Lynch David R, Napierala Jill S, Napierala Marek

Abstract excerpt

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 allele and another mutation on the second allele. We generated induced pluripotent stem cells from blood lymphocytes...

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Identifiers

PMID: 41865460
DOI: 10.1016/j.scr.2026.103966
PMCID: PMC13338934

Genes

FXN
GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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