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
Summary
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 splice-site regions of SCN5A require functional studies to characterise their pathogenicity as they are poorly understood. The generation of an induced pluripotent stem cell line provides a valuable resource to investigate the functional effects of potential splice-disrupting variants in SCN5A. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Li S, Fraser S, Ranpura G, Lim S, Singer ES, Parker JDK, Crowe J, Bagnall RD, Laksman Z, Semsarian C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Sep;71:103153 |
| PubMed | 37385135 |
| DOI | 10.1016/j.scr.2023.103153 |