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

Simge Kelekçi; Deniz Uğurlu-Çimen; Ata Berk Demir; Burcu Özçimen; Abdullah Burak Yıldız; Mehmet Batuhan Karakuş; Esra Börklü Yücel; Tamer T Önder

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

Stem Cell Res. 2021 Jul:54:102438. doi: 10.1016/j.scr.2021.102438. Epub 2021 Jun 27.

Authors

Simge Kelekçi¹, Deniz Uğurlu-Çimen¹, Ata Berk Demir¹, Burcu Özçimen¹, Abdullah Burak Yıldız¹, Mehmet Batuhan Karakuş¹, Esra Börklü Yücel², Tamer T Önder³

Affiliations

¹ School of Medicine, Koc University, Istanbul, Turkey.
² Diagnostic Center for Genetic Diseases, Koc University Hospital, Koc University, Istanbul, Turkey.
³ School of Medicine, Koc University, Istanbul, Turkey. Electronic address: tonder@ku.edu.tr.

PMID: 34214898
DOI: 10.1016/j.scr.2021.102438

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.

MeSH terms

Frataxin
Friedreich Ataxia* / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Introns / genetics
Iron-Binding Proteins* / genetics
Iron-Binding Proteins* / metabolism
Trinucleotide Repeat Expansion

Substances

Iron-Binding Proteins