Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)
Summary
Friedreich's ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of FXN gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A). Both iPSC lines displayed typical iPSC morphology, expression of pluripotency markers, regular karyotypes (46, XY; 46, XX), capacity to grow into three germ layers, and FRDA hallmark -GAA repeat expansion and decreased FXN mRNA. Through these iPSC lines, FRDA phenotypes may be replicated in the in vitro assays, by creating neuron subtypes, cardiomyocytes and 3D organoids, for molecular and cellular biomarkers and therapeutic applications. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ahmad I, Kamai A, Zahra S, Kapoor H, Kumar Srivastava A, Faruq M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103382 |
| PubMed | 38484450 |
| DOI | 10.1016/j.scr.2024.103382 |