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
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2020 | 起止号: | 2020 Mar:43:101731. |
| doi: | 10.1016/j.scr.2020.101731 | 研究方向: | 发育与干细胞 |
| 细胞类型: | 干细胞 | |
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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