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

被引：1

作者：

Dexheimer, Ryan ^{[1
,2
]}

Manhas, Amit ^{[1
,2
]}

Wu, David ^{[1
,3
]}

Tripathi, Dipti ^{[1
,3
]}

Chan, Sze Yu ^{[1
,2
]}

Li, Juana ^{[1
]}

Yu, Rebecca ^{[4
]}

Sayed, Nazish ^{[1
,3
]}

Wu, Joseph C. ^{[1
,2
]}

Sallam, Karim ^{[1
,2
]}

机构：

[1] Stanford Univ, Sch Med, Stanford Cardiovasc Inst, Stanford, CA USA

[2] Stanford Univ, Sch Med, Div Cardiovasc Med, Stanford, CA USA

[3] Stanford Univ, Dept Surg, Div Vasc Surg, Sch Med, Stanford, CA USA

[4] Greenstone Biosci, Palo Alto, CA 94305 USA

来源：

STEM CELL RESEARCH | 2024年 / 80卷

关键词：

Dilated Cardiomyopathy; Induced pluripotent stem cells; SCN5A; MUTATIONS;

D O I：

10.1016/j.scr.2024.103498

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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 SCN5Aassociated DCM, facilitating studies of ion channel protein involvement in the disease.

引用

页数：5

共 5 条

[1] SCN5A Variants: Association With Cardiac Disorders [J].