An induced pluripotent stem cell line (SHEHi002-A (5426))from a patient of long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C.,Stem Cell Research

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An induced pluripotent stem cell line (SHEHi002-A (5426))from a patient of long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-02-06 , DOI: 10.1016/j.scr.2020.101731
Hong-Mei Zhou ₁ , Xiao-Qian Zhou ₂ , Ji-Zhen Lu ₂ , Wen-Wen Jia ₁ , Jiu-Hong Kang ₃

Affiliation

Long QT syndrome type 8 is an uncommon inherited condition .An induced pluripotent stem cell (iPSC) line was generated from Peripheral blood mononuclear cells (PBMCs) of a 10-year-old patient with heterozygous mutation of p.R858H(c.2573G > A)in the CACNA1C gene. This iPSC model offers a very valuable resource to study the disease pathophysiology and to develop therapeutics for treatment of Long QT syndrome type 8 patients.

中文翻译：

来自长QT综合征8型患者的诱导多能干细胞系（SHEHi002-A（5426）），其CACNA1C基因突变为c.2573G> A。

长QT综合征8型是一种罕见的遗传病。从一名10岁患有p.R858H杂合突变的患者的外周血单核细胞（PBMC）产生了诱导多能干细胞（iPSC）系（c.2573G> CACNA1C基因中的A）。该iPSC模型提供了非常有价值的资源，可用于研究疾病的病理生理学并开发治疗Long QT综合征8型患者的疗法。

更新日期：2020-02-06

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