Generation of human induced pluripotent stem cells from cystic fibrosis patient carrying nonsense mutation (p.S308X) in CFTR gene

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 pathologi...

Full description

Saved in:
Bibliographic Details
Published in:Stem cell research 2022-04, Vol.60, p.102683-102683, Article 102683
Main Authors: Khor, Winnie, Hwang, Tzyh-Chang, Wang, Chih-Chien, Yarmishyn, Aliaksandr A., Yeh, Jiunn-Tyng, Chiou, Shih-Hwa, Chou, Shih-Jie
Format: Article
Language:English
Subjects:
Cell Line
Codon, Nonsense - genetics
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102683