Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants

被引：0
|
作者：
Sleiman, Yvonne [1 ]
Reisqs, Jean-Baptiste [1 ]
Tan, Reina Bianca [2 ]
Cecchin, Frank [2 ]
Chahine, Mohamed [3 ,4 ]
Boutjdir, Mohamed [1 ,5 ,6 ]
机构：
[1] VA New York Harbor Healthcare Syst, Cardiovasc Res Program, Brooklyn, NY 11209 USA
[2] NYU Grossman Sch Med, Dept Pediat, Div Pediat Cardiol, New York, NY USA
[3] Inst Univ Sante Mentale Quebec, CERVO Brain Res Ctr, Quebec City, PQ, Canada
[4] Univ Laval, Fac Med, Dept Med, Quebec City, PQ G1V 06A, Canada
[5] SUNY Downstate Hlth Sci Univ, Dept Med Cell Biol & Pharmacol, Brooklyn, NY USA
[6] NYU, Grossman Sch Med, Dept Med, New York, NY USA
来源：
STEM CELL RESEARCH | 2024年 / 81卷
关键词：
Progressive cardiac conduction defect; Sinoatrial node dysfunction; Induced pluripotent stem cells; SCN5A; CACNA1D; DSP;
D O I：
10.1016/j.scr.2024.103608
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：5
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