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, Simge; Ugurlu-Cimen, Deniz; Demir, Ata; Ozcimen, BURCU; Yildiz, Abdullah; Karakus, Mehmet; Yucel, Esra; Onder, Tamer

doi:10.1016/j.scr.2021.102438

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

Atıf İçin Kopyala

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

STEM CELL RESEARCH, cilt.54, 2021 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 54
Basım Tarihi: 2021
Doi Numarası: 10.1016/j.scr.2021.102438
Dergi Adı: STEM CELL RESEARCH
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE, Directory of Open Access Journals
Hacettepe Üniversitesi Adresli: Evet

Özet

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.