Generation of induced pluripotent stem cell lines from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene

被引：0

作者：

Ren, Lu

Jahng, James W. S. ^{[1
,2
]}

Belbachir, Nadjet ^{[1
,2
]}

Cook, Zachary ^{[3
]}

Rivero, Gabriela C. ^{[1
,2
]}

Perez, Marco V. ^{[1
,2
]}

Wu, Joseph C. ^{[1
,2
,4
]}

机构：

[1] Stanford Cardiovasc Inst, Stanford, CA 94305 USA

[2] Dept Med, Div Cardiovasc Med, Stanford, CA 94305 USA

[3] Greenstone Biosci, Palo Alto, CA 94304 USA

[4] 265 Campus Dr, G1120B, Stanford, CA 94305 USA

来源：

STEM CELL RESEARCH | 2024年 / 78卷

基金：

美国国家卫生研究院;

关键词：

Long QT Syndrome (LQTS); Human induced pluripotent stem cell (iPSC); KCNQ1; LONG-QT SYNDROME;

D O I：

10.1016/j.scr.2024.103443

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Long QT Syndrome (LQTS) is a genetic heart disorder that can induce cardiac arrhythmias. The most prevalent subtype, LQT1, stems from rare variants in the KCNQ1 gene. Utilizing induced pluripotent stem cells (iPSCs) enables detailed cellular studies and personalized medicine approaches for this life-threatening condition. We generated two LQT1 iPSC lines with single nucleotide nonsense mutations, c.1031 C > T and c.1121 T > A in KCNQ1. Both lines exhibited typical iPSC morphology, expressed high levels of pluripotent markers, maintained normal karyotype, and possessed the capability to differentiate into three germ layers. These cell lines serve as important tools for investigating the biological mechanisms underlying LQT1 due to mutations in the KCNQ1 gene.

引用

页数：5

共 5 条

[1] Generation of two induced pluripotent stem cell lines from Duchenne muscular dystrophy patients [J].