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

Winnie Khor, Tzyh Chang Hwang, Chih Chien Wang, Aliaksandr A. Yarmishyn, Jiunn Tyng Yeh, Shih Hwa Chiou, Shih Jie Chou*

*此作品的通信作者

研究成果: Article同行評審

摘要

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.

原文English
文章編號102683
期刊Stem Cell Research
60
DOIs
出版狀態Published - 4月 2022

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