Generation of two induced pluripotent stem cell (iPSC) lines carrying the Brugada Syndrome-associated mutation SCN5A-R282H

Abstract

Brugada Syndrome (BrS) is a cardiac arrhythmia disorder which can lead to sudden cardiac death. It is commonly associated with loss-of-function mutations in the SCN5A gene, encoding the alpha subunit of the sodium voltage-gated channel. We introduced the BrS associated mutation c.845G>A (p.R282H) in the SCN5A gene in a human induced pluripotent stem cell (hiPSC) line. We describe two lines, where the mutation is either in the same (cis) or opposite (trans) allele to the common polymorphism c.1673A>G (p.H558R). These hiPSC lines provide physiological models to study the role of this mutation and the effect of the polymorphism in BrS.