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

诱导性多能干细胞系 (SHEHi002-A (5426)),来自患有 8 型 QT 间期延长综合征且 CACNA1C 基因发生 c.2573G>A 突变的患者

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作者:Hong-Mei Zhou, Xiao-Qian Zhou, Ji-Zhen Lu, Wen-Wen Jia, Jiu-Hong Kang

Abstract

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.

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