Generation of two induced pluripotent stem cell lines carrying the R14del mutation for ARVD/C

被引：3

作者：

Vera, Carlos D. ^{[1
,2
]}

Manhas, Amit ^{[1
,2
]}

Shenoy, Sushma P. ^{[1
,2
]}

Wheeler, Matthew T. ^{[1
,2
]}

Sallam, Karim ^{[1
,2
]}

Wu, Joseph C. ^{[1
,2
,3
]}

机构：

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

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

[3] 265 Campus Dr,G1120B, Stanford, CA 94305 USA

来源：

STEM CELL RESEARCH | 2022年 / 63卷

基金：

美国国家卫生研究院;

关键词：

Arrhythmogenic right ventricular dysplasia; PLN; Induced pluripotent stem cells; CARDIOMYOPATHY;

D O I：

10.1016/j.scr.2022.102834

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

The phospholamban (PLN) R14del mutation is associated with arrhythmogenic right ventricular dysplasia (ARVD/C). ARVD/C is a cardiac disease characterized by arrhythmias and structural abnormalities in the right ventricle. Because PLN is a regulator of calcium release, this mutation can have deleterious effects on tissue integrity and contraction. This mutation is a trinucleotide (AGA) deletion that leads to an arginine deletion at position 14 of the PLN structure. Here we show two lines carrying this mutation with typical iPSC morphology, pluripotency, karyotype, ability to differentiate into the three germ layers in vitro, and readily availability for studying pathological mechanisms or ARVD/C.

引用

页数：5

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