Generation of two iPSC lines from dilated cardiomyopathy patients with pathogenic variants in the SCN5A gene

Dilated cardiomyopathy (DCM) is a disorder of cardiac ventricular dilation and contractile dysfunction that often progresses to heart failure. Multiple genes have been associated with DCM, including SCN5A which has been linked to 2 % of all DCM cases. Peripheral mononuclear blood cells from DCM pati...

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Published inStem cell research Vol. 80; p. 103498
Main Authors Dexheimer, Ryan, Manhas, Amit, Wu, David, Tripathi, Dipti, Yu Chan, Sze, Li, Juana, Yu, Rebecca, Sayed, Nazish, Wu, Joseph C., Sallam, Karim
Format Journal Article
LanguageEnglish
Published Elsevier B.V 01.10.2024
Elsevier
Subjects
Dilated Cardiomyopathy
Induced pluripotent stem cells
SCN5A
Induced pluripotent stem cells
SCN5A
Dilated Cardiomyopathy
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Summary:Dilated cardiomyopathy (DCM) is a disorder of cardiac ventricular dilation and contractile dysfunction that often progresses to heart failure. Multiple genes have been associated with DCM, including SCN5A which has been linked to 2 % of all DCM cases. Peripheral mononuclear blood cells from DCM patients with SCN5A variants (c.2440C>T and c.665G>A) were utilized to generate two human induced pluripotent stem cell (iPSC) lines. Both lines exhibited typical iPSC morphology, expressed pluripotency markers, normal karyotypes, and trilineage differentiation capabilities. These lines offer valuable resources for investigating the mechanism of SCN5A-associated DCM, facilitating studies of ion channel protein involvement in the disease.
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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103498