Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation

Luca Lavra; Fiorenza Magi; Alessandra Ulivieri; Alessandra Morgante; Marianna Paulis; Luca Sala; Matteo Pedrazzini; Patrizio Polisca; Marcella Rocchetti; Leonardo Calò; Salvatore Sciacchitano; Leila B Salehi

doi:10.1016/j.scr.2021.102418

Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation

Stem Cell Res. 2021 Jul:54:102418. doi: 10.1016/j.scr.2021.102418. Epub 2021 Jun 5.

Authors

Affiliations

¹ Laboratory of Biomedical Research, Niccolò Cusano University Foundation, Via Don Carlo Gnocchi 3, 00166 Rome, Italy. Electronic address: luca.lavra@fondazioneniccolocusano.it.
² Laboratory of Biomedical Research, Niccolò Cusano University Foundation, Via Don Carlo Gnocchi 3, 00166 Rome, Italy.
³ Humanitas Clinical and Research Center-IRCCS, Rozzano, 20089 Milan, Italy; Institute of Genetic and Biomedical Research (IRGB)-UOS of Milan, National Research Council (CNR), 20138 Milan, Italy.
⁴ Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Via Zucchi 18, Cusano Milanino, MI, Italy.
⁵ Laboratory of Biomedical Research, Niccolò Cusano University Foundation, Via Don Carlo Gnocchi 3, 00166 Rome, Italy; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Viale Montpellier 1, 00133 Rome, Italy.
⁶ Department of Biotechnology and Biosciences, Università degli Studi di Milano-Bicocca, Piazza della Scienza 2, 20126 Milan, Italy.
⁷ Division of Cardiology, Policlinico Casilino, Via Casilina 1049, 00169 Rome, Italy.
⁸ Laboratory of Biomedical Research, Niccolò Cusano University Foundation, Via Don Carlo Gnocchi 3, 00166 Rome, Italy; Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa 1035/1039, 00189 Rome, Italy.
⁹ Laboratory of Biomedical Research, Niccolò Cusano University Foundation, Via Don Carlo Gnocchi 3, 00166 Rome, Italy; Medical Genetics Unit, Tor Vergata University Hospital, PTV, Viale Montpellier 1, 00133 Rome, Italy.

PMID: 34130155
DOI: 10.1016/j.scr.2021.102418

Abstract

In this study we describe the generation and characterization of an human induced pluripotent stem cell (hiPSC) line from a long QT syndrome type 1 (LQT1) patient carrying the KCNQ1 c.940 G > A (p.Gly314Ser) mutation. This patient-specific iPSC line has been obtained by using non-integrational Sendai reprogramming method, expresses pluripotency markers and has the capacity to differentiate into the three germ layers and into spontaneously beating cardiomyocytes (iPSC-CMs).

MeSH terms

Cell Line
Humans
Induced Pluripotent Stem Cells*
KCNQ1 Potassium Channel / genetics
Mutation
Romano-Ward Syndrome*

Substances

KCNQ1 Potassium Channel
KCNQ1 protein, human