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

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

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-yea...

Full description

Saved in:
Bibliographic Details
Main Authors: Yvonne Sleiman, Jean-Baptiste Reisqs, Reina Bianca Tan, Frank Cecchin, Mohamed Chahine, Mohamed Boutjdir
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Stem Cell Research
Subjects:
Progressive cardiac conduction defect
Sinoatrial node dysfunction
Induced pluripotent stem cells
SCN5A
CACNA1D
DSP
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124003064
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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.
ISSN:1873-5061

Similar Items