Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq
Stem cell research 2024 FebFriedreich's ataxia (FRDA) is a rare neurodegenerativedisorder caused by over expansion of GAA repeats in thefirstintron ofFXN gene. Here, we generated two iPSC lines from FRDA patients with biallelic expansion of GAA repeats in the first intron ofFXNgene.IGIBi014-A and IGIBi015-Aboth 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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq. 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. Stem cell research. 2024 Feb;74:103289
PMID: 38141359
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