Ontology highlight
ABSTRACT:
SUBMITTER: Li W
PROVIDER: S-EPMC7642519 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Li Wener W Stauske Michael M Luo Xiaojing X Wagner Stefan S Vollrath Meike M Mehnert Carola S CS Schubert Mario M Cyganek Lukas L Chen Simin S Hasheminasab Sayed-Mohammad SM Wulf Gerald G El-Armouche Ali A Maier Lars S LS Hasenfuss Gerd G Guan Kaomei K
Frontiers in cell and developmental biology 20201022
Brugada syndrome (BrS) is one of the major causes of sudden cardiac death in young people, while the underlying mechanisms are not completely understood. Here, we investigated the pathophysiological phenotypes and mechanisms using induced pluripotent stem cell (iPSC)-derived cardiomyocytes (CMs) from two BrS patients (BrS-CMs) carrying a heterozygous <i>SCN5A</i> mutation p.S1812X. Compared to CMs derived from healthy controls (Ctrl-CMs), BrS-CMs displayed a 50% reduction of <i>I</i> <sub>Na</su ...[more]