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从携带KCNQ1-R594Q突变的个体中生成人诱导多能干细胞（hiPSC）系PSMi004-A。

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q 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.

Department of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region; Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine, The University of Hong Kong, Hong Kong Special Administrative Region; Guangzhou Institutes of Biomedicine and Health, China.

出版信息

Stem Cell Res. 2019 May;37:101431. doi: 10.1016/j.scr.2019.101431. Epub 2019 Mar 27.

DOI:10.1016/j.scr.2019.101431
PMID:
30974404
Abstract

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a male carrier of the heterozygous mutation c.1781 G > A p.R594Q on the KCNQ1 gene. hiPSCs, generated using four retroviruses each encoding for OCT4, SOX2, KLF4 and cMYC, 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.1781G>A p.R594Q的男性的真皮成纤维细胞中生成了人诱导多能干细胞（hiPSC）。使用分别编码OCT4、SOX2、KLF4和cMYC的四种逆转录病毒生成的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 PSMi004-A from a carrier of the KCNQ1-R594Q mutation.从携带KCNQ1-R594Q突变的个体中生成人诱导多能干细胞（hiPSC）系PSMi004-A。
Stem Cell Res. 2019 May;37:101431. doi: 10.1016/j.scr.2019.101431. Epub 2019 Mar 27.
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