Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants
Summary
Progressive cardiac conduction defect often associated with variants in sodium voltage-gated channel SCN5A gene and variants in the L-type calcium voltage-gated channel CACNA1D gene are implicated in sinoatrial node dysfunction. We generated an induced pluripotent stem cell line (iPSC) from a 13-year-old patient with history of conduction system disease and ventricular tachycardia, carrying variants in SCN5A (c.2618C > G), CACNA1D (c.3786G > T), and DSP (c.1582C > G). The generated iPSC line exhibited pluripotency markers, differentiated into the three embryonic germ layers, and maintained a normal karyotype. This iPSC line offers insights into the pathophysiological mechanisms of cardiac arrhythmias and personalized therapies development. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Sleiman Y, Reisqs JB, Bianca Tan R, Cecchin F, Chahine M, Boutjdir M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103608 |
| PubMed | 39551029 |
| DOI | 10.1016/j.scr.2024.103608 |