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

doi:10.1016/j.scr.2018.04.003

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

Stem Cell Res. 2018 May:29:170-173. doi: 10.1016/j.scr.2018.04.003. Epub 2018 Apr 6.

Authors

Affiliations

¹ 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.
² Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
³ Laboratory of Oncohaematological Cytogenetic and Molecular Diagnostics, Division of Haematology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
⁴ 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.
⁵ IRCCS Auxologic Italian Institute, Center for Cardiac Arrhythmias of Genetic Origin, Laboratory of Cardiovascular Genetics, Milan, Italy.
⁶ 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.
⁷ 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.. Electronic address: [email protected].

PMID: 29684900
DOI: 10.1016/j.scr.2018.04.003

Abstract

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51years 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).

MeSH terms

Cell Line
Cellular Reprogramming Techniques*
Female
Genes, Recessive*
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Kruppel-Like Factor 4
Middle Aged
Romano-Ward Syndrome* / genetics
Romano-Ward Syndrome* / metabolism
Romano-Ward Syndrome* / pathology
Transcription Factors / biosynthesis
Transcription Factors / genetics

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Transcription Factors