从一名患有杰韦尔和朗格-尼尔森综合征且携带KCNQ1基因两个复合杂合突变的患者身上生成人类诱导多能干细胞（hiPSC）系PSMi002-A。
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
作者信息
Mura Manuela, Lee Yee-Ki, Ginevrino Monia, Zappatore Rita, Pisano Federica, Boni Marina, Dagradi Federica, Crotti Lia, Valente Enza Maria, Schwartz Peter J, Tse Hung-Fat, Gnecchi Massimiliano
机构信息
Coronary Care Unit, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Laboratory of Experimental Cardiology for Cell and Molecular Therapy, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Cardiology Division, Department of Medicine, The University of Hong Kong, Hong Kong, China; Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine, The University of Hong Kong, Guangzhou Institutes of Biomedicine and Health, Hong Kong, China.
出版信息
Stem Cell Res. 2018 May;29:157-161. doi: 10.1016/j.scr.2018.04.002. Epub 2018 Apr 7.
We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).
我们报告了从一名女性患者的真皮成纤维细胞中生成人类诱导多能干细胞（hiPSC）的过程。该女性患者是KCNQ1基因上两个复合杂合突变c.568 C>T p.R190W（母本等位基因）和c.1781 G>A p.R594Q（父本等位基因）的携带者，这两个突变导致了杰韦尔和朗格-尼尔森综合征（JLNS）。为了获得hiPSC，我们采用了经典的方法，即使用四种逆转录病毒，每种病毒分别编码重编程因子OCT4、SOX2、KLF4和cMYC。所获得的hiPSC克隆表现出多能干细胞的特征，并分化为自发跳动的心肌细胞（hiPSC-CM）。
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