Key result
Two human induced pluripotent stem cell lines carrying the Brugada Syndrome-associated SCN5A-R282H mutation in cis or trans to the H558R polymorphism were successfully generated.
Why the study?
Physiological models were needed to study the role of the Brugada Syndrome-associated SCN5A mutation c.845G>A (p.R282H) and the effect of the polymorphism c.1673A>G (p.H558R).
The newly generated hiPSC lines provide a physiological model to study the role of the SCN5A-R282H mutation and the H558R polymorphism in Brugada Syndrome.
These hiPSC lines enable mechanistic Brugada Syndrome research; leaves open clinical translation pending validation.
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.
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Popović et al. (2024) studied Brugada Syndrome. Introduction of SCN5A-R282H mutation was evaluated on Generation of hiPSC lines. Two human induced pluripotent stem cell lines carrying the Brugada Syndrome-associated SCN5A-R282H mutation in cis or trans to the H558R polymorphism were successfully generated.
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