Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene


Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder which is caused by triplet repeat expansion (GAA) in the first intron of FXN gene. In this present study, we generated induced pluripotent stem cells (iPSC) lines from fibroblasts of three unrelated FRDA patients using integration-free episomal vectors. All iPSC lines express the pluripotency markers such as OCT4 and SSEA4, display normal karyotypes and can differentiate into all three germ layers via in vivo teratoma formation assay. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Kelekçi S, Uğurlu-Çimen D, Demir AB, Özçimen B, Burak Yıldız A, Batuhan Karakuş M, Börklü Yücel E, Önder TT
Journal Stem cell research
Publication Date 2021 Jul;54:102438
PubMed 34214898
DOI 10.1016/j.scr.2021.102438

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