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从携带KCNQ1-R190W突变的患者中生成人诱导多能干细胞（hiPSC）系PSMi005-A。

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.

作者信息

Mura Manuela, Lee Yee-Ki, Pisano Federica, Ginevrino Monia, Boni Marina, Calabrò Federica, Crotti Lia, Valente Enza Maria, Schwartz Peter J, Tse Hung-Fat, Gnecchi Massimiliano

机构信息

Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Cardiology Division, Department of Medicine, the University of Hong Kong, Hong Kong SAR, China; Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine, the University of Hong Kong, Hong Kong SAR, China; Guangzhou Institutes of Biomedicine and Health, China.

出版信息

Stem Cell Res. 2019 May;37:101437. doi: 10.1016/j.scr.2019.101437. Epub 2019 Apr 13.

DOI:10.1016/j.scr.2019.101437
PMID:
31009818
Abstract

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a woman carrier of the heterozygous mutation c.568C > T p.R190W on the KCNQ1 gene. hiPSCs, obtained using four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).

摘要

我们从一名携带KCNQ1基因杂合突变c.568C > T p.R190W的女性的皮肤成纤维细胞中生成了人诱导多能干细胞（hiPSC）。使用编码重编程因子OCT4、SOX2、cMYC和KLF4的四种逆转录病毒获得的hiPSC具有多能干细胞特征，并且可以分化为自发跳动的心肌细胞（hiPSC-CM）。

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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.从携带KCNQ1-R190W突变的患者中生成人诱导多能干细胞（hiPSC）系PSMi005-A。
Stem Cell Res. 2019 May;37:101437. doi: 10.1016/j.scr.2019.101437. Epub 2019 Apr 13.
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引用本文的文献

1
Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.患者特异性诱导多能干细胞作为遗传性心肌病和离子通道病的“培养皿中的疾病”模型——15年研究历程
World J Stem Cells. 2021 Apr 26;13(4):281-303. doi: 10.4252/wjsc.v13.i4.281.