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

被引：2

作者：

Mura, Manuela ^{[1
,2
]}

Lee, Yee-ki ^{[3
,4
]}

Ginevrino, Monia ^{[5
,6
]}

Zappatore, Rita ^{[7
]}

Pisano, Federica ^{[1
,2
]}

Boni, Marina ^{[7
]}

Dagradi, Federica ^{[8
,9
]}

Crotti, Lia ^{[9
,10
]}

Valente, Enza Maria ^{[5
,6
]}

Schwartz, Peter J. ^{[9
]}

Tse, Hung-Fat ^{[3
,4
]}

Gnecchi, Massimiliano ^{[1
,2
,8
,11
]}

机构：

[1] IRCCS Policlin San Matteo Fdn, Coronary Care Unit, Pavia, Italy

[2] IRCCS Policlin San Matteo Fdn, Lab Expt Cardiol Cell & Mol Therapy, Pavia, Italy

[3] Univ Hong Kong, Dept Med, Cardiol Div, Hong Kong, Hong Kong, Peoples R China

[4] Univ Hong Kong, Guangzhou Inst Biomed & Hlth, Hong Kong Guangdong Joint Lab Stem Cell & Regener, Hong Kong, Hong Kong, Peoples R China

[5] Univ Pavia, Dept Mol Med, Pavia, Italy

[6] IRCCS Santa Lucia Fdn, Neurogenet Unit, Rome, Italy

[7] Fdn IRCCS Policlin San Matteo, Div Haematol, Lab Oncohaematol Cytogenet & Mol Diagnost, Pavia, Italy

[8] Univ Pavia, Unit Cardiol, Dept Mol Med, Pavia, Italy

[9] IRCCS Auxol Italian Inst, Ctr Cardiac Arrhythmias Genet Origin, Lab Cardiovasc Genet, Milan, Italy

[10] San Luca Hosp IRCCS Auxol Italian Inst, Dept Cardiovasc Neural & Metab Sci, Milan, Italy

[11] Univ Cape Town, Dept Med, Cape Town, South Africa

来源：

STEM CELL RESEARCH | 2018年 / 29卷

关键词：

D O I：

10.1016/j.scr.2018.04.002

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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 stemcell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs). (C) 2018 The Authors. Published by Elsevier B.V.

引用

页码：157 / 161

页数：5

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