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...
Topics
- Humans
- Friedreich Ataxia
- Induced Pluripotent Stem Cells
- Iron-Binding Proteins
- Frataxin
- RNA Splicing
- Mutation
- Introns