Generation of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation

被引：0
|
作者：
Lee, Youngsun [1 ,2 ]
Park, Hun-Jun [3 ]
Kim, Yong-Ou [1 ,2 ]
Kim, Bo-Young [1 ,2 ]
机构：
[1] Natl Inst Hlth, Div Intractable Dis Res, Cheongju, South Korea
[2] Natl Inst Hlth, Korea Natl Stem Cell Bank, Cheongju, South Korea
[3] Catholic Univ Korea, Seoul St Marys Hosp, Dept Internal Med, Div Cardiol, Seoul, South Korea
来源：
STEM CELL RESEARCH | 2024年 / 81卷
关键词：
D O I：
10.1016/j.scr.2024.103560
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia disorder characterized by irregular heartbeats triggered by exercise emotional stress. CPVT is primarily caused by genetic mutations in RYR2, , which is crucial for calcium regulation in heart and muscle cells, ensuring contraction. In this paper, we developed a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient carrying a heterozygous mutation RYR2 gene, c.1070G>T. The KSCBi016-A cell line retained stem cell-like morphology, maintained a normal karyotype, exhibited pluripotency, and could entiate into three germ layers in vitro.
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页数：5
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