Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1

Manuela Mura; Monia Ginevrino; Rita Zappatore; Federica Pisano; Marina Boni; Silvia Castelletti; Lia Crotti; Enza Maria Valente; Peter J. Schwartz; Massimiliano Gnecchi

Stem Cell Research (May 2018)

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1

Manuela Mura,
Monia Ginevrino,
Rita Zappatore,
Federica Pisano,
Marina Boni,
Silvia Castelletti,
Lia Crotti,
Enza Maria Valente,
Peter J. Schwartz,
Massimiliano Gnecchi

Affiliations

Manuela Mura: 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.
Monia Ginevrino: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy
Rita Zappatore: Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Federica Pisano: 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.; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy.
Marina Boni: Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Silvia Castelletti: IRCCS Auxologic Italian Institute, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy.
Lia Crotti: IRCCS Auxologic Italian Institute, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy.; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Auxologic Italian Institute, Milan, Italy.
Enza Maria Valente: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy
Peter J. Schwartz: IRCCS Auxologic Italian Institute, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy.
Massimiliano Gnecchi: 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.; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy.; Department of Medicine, University of Cape Town, Cape Town, South Africa.; Corresponding author at: Fondazione IRCCS Policlinico San Matteo, Unità Coronarica, DEA Torre A, Viale Golgi 19, 27100 Pavia, Italy.

Journal volume & issue: Vol. 29
pp. 170 – 173

Abstract

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We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51 years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC, are pluripotent and can differentiate 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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