The successful generation of these patient-derived iPSC lines provides a valuable in vitro model for studying the cellular electrophysiology and pathophysiology of Brugada syndrome caused by this specific SCN5A mutation.
Patient-derived iPSC lines enable BrS modeling; leaves open functional validation and clinical translation.
Brugada syndrome (BrS) is an inherited primary electrical disorder of the heart. 25% of BrS patients carry a mutation in the SCN5A gene, encoding the cardiac specific voltage-gated sodium channel Nav1.5. Here we report two iPSC lines (BBANTWi006-A, BBANTWi007-A) of a brother and a sister carrying an SCN5A mutation (c.4813 + 3_4813 + 6dupGGGT) causing BrS. iPSCs were generated from dermal fibroblasts and reprogrammed with the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The generated iPSCs showed a normal karyotype, expressed pluripotency markers, were differentiated into cells of the three germ layers and carried the original genotype.
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Simons et al. (2022) studied this question.
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