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

doi:10.1016/j.scr.2019.101658

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

Stem Cell Res. 2020 Jan:42:101658. doi: 10.1016/j.scr.2019.101658. Epub 2019 Nov 20.

Authors

Affiliations

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.

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

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Differentiation
Cell Line
Female
Humans
Induced Pluripotent Stem Cells / metabolism*
Kruppel-Like Factor 4
Long QT Syndrome / genetics*