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


Kelekci S., Ugurlu-Cimen D., Demir A. B. , Ozcimen B. , Yildiz A. B. , Karakus M. B. , ...More

STEM CELL RESEARCH, vol.54, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 54
  • Publication Date: 2021
  • Doi Number: 10.1016/j.scr.2021.102438
  • Title of Journal : STEM CELL RESEARCH

Abstract

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.