Generation of human induced pluripotent stem cells from cystic fibrosis patient carrying nonsense mutation (p.S308X) in CFTR gene
Summary
Cystic fibrosis (CF) is a genetic disease affects CFTR channel synthesis. While 90 percent of the CF patients now benefit from small molecule target therapies, this treatment has yet to extend to those bearing nonsense mutations. Studies of these rare mutations using cell lines with native pathological signatures of the disease may lead to breakthroughs in therapeutic development. Here, we report the generation of CF patient-derived induced pluripotent stem cells (iPSCs) carrying a nonsense mutation at position 308 (S308X). The pluripotency and genomic profile of the iPSC line was validated as a resource that can enable future research for CF. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Khor W, Hwang TC, Wang CC, Yarmishyn AA, Yeh JT, Chiou SH, Chou SJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102683 |
| PubMed | 35091309 |
| DOI | 10.1016/j.scr.2022.102683 |