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...
Main Authors: | Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S. Singer, Jeremy D.K. Parker, Joshua Crowe, Richard D. Bagnall, Zachary Laksman, Christopher Semsarian |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2023-09-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001393 |
Similar Items
-
Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation
by: Mira Holliday, et al.
Published: (2018-12-01) -
A recombinant subunit HS aba392 as a potential vaccine for haemorrhagic septicaemia disease in livestock
by: Rita, D.V., et al.
Published: (2018) -
Association of SCN5A gene polymorphism with dilated cardiomyopathy
by: S. Yu. Nikulina, et al.
Published: (2021-09-01) -
Expedition 392 methods
by: Uenzelmann-Neben, G, et al.
Published: (2023) -
Expedition 392 summary
by: Uenzelmann-Neben, G, et al.
Published: (2023)