Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene

Abstract

Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder caused by over expansion of GAA repeats in the first intron of FXN gene. Here, we generated two iPSC lines from FRDA patients with biallelic expansion of GAA repeats in the first intron of FXN gene. IGIBi014-A and IGIBi015-A both iPSC lines demonstrated characteristics of pluripotency, normal karyotypes (46, XY), the capacity to differentiate into all three germ layers, and the ability to sustain the GAA repeat expansion with decreased FXN mRNA expression. These cell lines will be utilized to comprehend the pathophysiology of the illness and the FRDA's predictive phenotypes.