Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

Variants in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) produce variable cardiac phenotypes including Brugada syndrome, conduction disease and cardiomyopathy. These phenotypes can lead to life-threatening arrhythmias, heart failure, and sudden cardiac death. Novel variants in splic...

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Hlavní autoři:	Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S. Singer, Jeremy D.K. Parker, Joshua Crowe, Richard D. Bagnall, Zachary Laksman, Christopher Semsarian
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2023-09-01
Edice:	Stem Cell Research
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1873506123001393
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