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Stem Cell Res. 2019 Nov 20;42:101658. doi: 10.1016/j.scr.2019.101658. [Epub ahead of print]

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.

Author information

1
Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
2
Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy.
3
Department of Molecular Medicine, Unit of Genetics, Università degli studi di Pavia, Pavia, Italy; Neurogenetics Unit, Fondazione IRCCS Santa Lucia, Rome, Italy.
4
Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
5
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.
6
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy.
7
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. Electronic address: m.gnecchi@unipv.it.

Abstract

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:

Ectoderm; Endoderm; Mesoderm

PMID:
31785541
DOI:
10.1016/j.scr.2019.101658
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