Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

Stem Cell Res. 2023 Sep:71:103153. doi: 10.1016/j.scr.2023.103153. Epub 2023 Jun 23.

Abstract

Variants in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) produce variable cardiac phenotypes including Brugada syndrome, conduction disease and cardiomyopathy. These phenotypes can lead to life-threatening arrhythmias, heart failure, and sudden cardiac death. Novel variants in splice-site regions of SCN5A require functional studies to characterise their pathogenicity as they are poorly understood. The generation of an induced pluripotent stem cell line provides a valuable resource to investigate the functional effects of potential splice-disrupting variants in SCN5A.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac
  • Cardiac Conduction System Disease
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation
  • NAV1.5 Voltage-Gated Sodium Channel / genetics
  • Sodium / metabolism
  • Ventricular Fibrillation* / genetics

Substances

  • SCN5A protein, human
  • NAV1.5 Voltage-Gated Sodium Channel
  • Sodium