Generation of two induced pluripotent stem cell (iPSC) lines (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying an SCN5A mutation

• Published in: Stem cell research Vol. 60; p. 102719
• Main Authors: Simons, Eline, Nijak, Aleksandra, Loeys, Bart, Alaerts, Maaike
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.04.2022; Elsevier
• Subjects: Brugada Syndrome - genetics; Brugada Syndrome - metabolism; Humans; Induced Pluripotent Stem Cells - metabolism; Lab Resource: Multiple Cell Lines; Male; Mutation - genetics; NAV1.5 Voltage-Gated Sodium Channel - genetics; NAV1.5 Voltage-Gated Sodium Channel - metabolism
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102719

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.