Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation.

Ning Ge,Joseph Galvin,Min Liu,Sanbing Shen,Yicheng Ding,Veronica Mcinerney,Janusz Krawczyk,Terence Prendiville,Timothy O'Brien

doi:10.1016/j.scr.2019.101650

Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation.

Ning Ge, Joseph Galvin + Show 7 more

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https://doi.org/10.1016/j.scr.2019.101650

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Journal: Stem Cell Research	Publication Date: Nov 14, 2019
Citations: 7	License type: cc-by-nc-nd

Affiliation: Mater Misericordiae University Hospital, Ollscoil na Gaillimhe – University of Galway, Hebei Normal University, National University of Ireland, University Hospital Galway, National Children’s Research Centre, Children's Health Ireland at Crumlin

#Long QT Syndrome Type 1 #QT Syndrome Type + Show 8 more

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Abstract

In this study, we describe the generation and characterization of induced pluripotent stem cell (iPSC) lines from familial long QT syndrome type 1 (LQT1) patients carrying the KCNQ1 c.1201dupC (p.Arg401fs) frame shift mutation by using non-integrational Sendai reprogramming method. The patient-specific iPSC lines harboring the c.1201dupC mutation on KCNQ1 gene expressed pluripotency markers and had the capacity to differentiate into three germ layers.

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