Generation of an induced pluripotent stem cell line from a Brugada syndrome patient carrying SCN5A/c.3118G>C mutation

Autor: Hangping Fan, Jun Su, Xiaochen Wang, Hao Wang, Xianzhen Chen, Yaxun Sun, Chenyang Jiang, Ping Liang
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Stem Cell Research, Vol 80, Iss , Pp 103529- (2024)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2024.103529
Popis: Brugada syndrome (BrS) is a hereditary arrhythmia syndrome characterized by right bundle branch block on an electrocardiogram and persistent ST-segment elevation in the right precordial leads. In this study, we describe the establishment of an induced pluripotent stem cell (iPSC) line derived from a BrS patient carrying the novel heterogeneous missense mutation (c.3118G>C; p.G1040R) in the sodium channel protein type 5 subunit alpha (SCN5A) gene. Skin fibroblasts underwent reprogramming using a non-integrated Sendai viral method. Generated iPSC line exhibited embryonic stem cell-like morphology, maintained a normal karyotype, expressed pluripotency markers, and demonstrated the capacity to differentiate into three germ layers.
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