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

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

Stem Cell Research (May 2019)

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

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

Affiliations

Manuela Mura: Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Yee-Ki Lee: 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
Federica Pisano: 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
Monia Ginevrino: Department of Molecular Medicine, Unit of Genetics, Università degli Studi di Pavia, Pavia, Italy; Neurogenetics Unit, Fondazione IRCCS Santa Lucia, Rome, Italy
Marina Boni: Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Federica Calabrò: Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Lia Crotti: 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
Enza Maria Valente: Department of Molecular Medicine, Unit of Genetics, Università degli Studi di Pavia, Pavia, Italy; Neurogenetics Unit, Fondazione IRCCS Santa Lucia, Rome, Italy
Peter J. Schwartz: Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy
Hung-Fat Tse: 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
Massimiliano Gnecchi: 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; Corresponding author at: Università di Pavia, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.

Journal volume & issue: Vol. 37

Abstract

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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).

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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