Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Na _v1.5-subunit mutations.

ABSTRACT: Brugada syndrome (BrS) is a complex genetic cardiac ion channel disease that causes a high predisposition to sudden cardiac death. Considering that its heterogeneity in clinical manifestations may result from genetic background, the application of patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) may help to reveal cell phenotype characteristics underlying different genetic variations. Here, to verify and compare the pathogenicity of mutations (SCN5A c.4213G>A andSCN1B c.590C>T) identified from two BrS patients, we generated two novel BrS iPS cell lines that carried missense mutations inSCN5A or SCN1B, compared their structures and electrophysiology, and evaluated the safety of quinidine in patient-specific iPSC-derived CMs. Compar

SUBMITTER: Zhu Y 

PROVIDER: S-EPMC8502687 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature