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Stem Cell Res. 2019 Mar 27;37:101431. doi: 10.1016/j.scr.2019.101431. [Epub ahead of print]

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

Author information

1
Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
2
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.
3
Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli Studi di Pavia, Pavia, Italy.
4
Department of Molecular Medicine, Unit of Genetics, Università degli Studi di Pavia, Pavia, Italy; Neurogenetics Unit, Fondazione IRCCS Santa Lucia, Rome, Italy.
5
Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
6
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy; Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, Ospedale San Luca, Milan, Italy; Department of Medicine and Surgery, Università Milano-Bicocca, Milan, Italy.
7
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy.
8
Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli Studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address: m.gnecchi@unipv.it.

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).

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