Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1

Manuela Mura; Francesca Bastaroli; Marzia Corli; Monia Ginevrino; Federica Calabrò; Marina Boni; Lia Crotti; Enza Maria Valente; Peter J. Schwartz; Massimiliano Gnecchi

Stem Cell Research (Jan 2020)

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1

Manuela Mura,
Francesca Bastaroli,
Marzia Corli,
Monia Ginevrino,
Federica Calabrò,
Marina Boni,
Lia Crotti,
Enza Maria Valente,
Peter J. Schwartz,
Massimiliano Gnecchi

Affiliations

Manuela Mura: Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Francesca Bastaroli: Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy
Marzia Corli: 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
Federica Calabrò: Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Marina Boni: Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Lia Crotti: Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, 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 and Laboratory of Cardiovascular Genetics, Milan, Italy
Massimiliano Gnecchi: Coronary Care Unit and 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: University of Pavia and Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.

Journal volume & issue: Vol. 42

Abstract

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We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 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). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and differentiate into cell lineages of all three germ layers: endoderm, mesoderm and ectoderm. Keywords: Endoderm, Mesoderm, Ectoderm

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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