Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A


Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the leading cause of death is hypertrophic cardiomyopathy (HCM) that develops in 60% of the patients. We generated an induced pluripotent stem cell (iPSC) line from an FA patient with a homozygous GAA expansion in intron 1 of the FXN gene. The IPSCs display pluripotent cell morphology, expression of pluripotency markers, normal karyotype, and the capability to differentiate into all three germ layers. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Angulo MB, Yang J, Argenziano MA, Bertalovitz AC, Beidokhti MN, McDonald TV
Journal Stem cell research
Publication Date 2021 Jul;54:102399
PubMed 34034220
DOI 10.1016/j.scr.2021.102399

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