Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W 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 PSMi005-A from a patient carrying the KCNQ1-R190W 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: Cardiology Division, Department of Medicine, the University of Hong Kong, Hong Kong SAR, China; Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine, the University of Hong Kong, Hong Kong SAR, China; 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: Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto Auxologico italiano, IRCCS, Milan, Italy; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Istituto Auxologico italiano, IRCCS, 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: Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto Auxologico italiano, IRCCS, Milan, Italy
Hung-Fat Tse: Cardiology Division, Department of Medicine, the University of Hong Kong, Hong Kong SAR, China; Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine, the University of Hong Kong, Hong Kong SAR, China; 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: IRCCS Policlinico S. Matteo, Università di Pavia and Fondazione, 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 woman carrier of the heterozygous mutation c.568C > T p.R190W on the KCNQ1 gene. hiPSCs, obtained using four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, 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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