Patient-specific iPSC-derived cardiomyocytes reveal variable phenotypic severity of Brugada syndrome.

ABSTRACT:

Background

Brugada syndrome (BrS) is a cardiac channelopathy that can result in sudden cardiac death (SCD). SCN5A is the most frequent gene linked to BrS, but the genotype-phenotype correlations are not completely matched. Clinical phenotypes of a particular SCN5A variant may range from asymptomatic to SCD. Here, we used comparison of induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) derived from a SCN5A mutation-positive (D356Y) BrS family with severely affected proband, asymptomatic mutation carriers (AMCs) and healthy controls to investigate this variation.

Methods

26 iPSC lines were generated from skin fibroblasts using nonintegrated Sendai virus. The generated iPSCs were differentiated into cardiomyocytes using a monolayer-based differentiation protocol.

SUBMITTER: Sun Y 

PROVIDER: S-EPMC10427992 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature