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Stem Cell Res. 2019 Nov 14;41:101650. doi: 10.1016/j.scr.2019.101650. [Epub ahead of print]

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.

Author information

1
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland.
2
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland; Department of Physiology, College of Life Science, Hebei Normal University, Shijiazhuang, China.
3
Department of Haematology, Galway University Hospital, Ireland.
4
HRB Clinical Research Facility, National University of Ireland (NUI) Galway, Ireland.
5
Mater Misericordiae University Hospital, Eccles st., Dublin 7, Ireland.
6
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland. Electronic address: sanbing.shen@nuigalway.ie.
7
National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. Electronic address: terence.prendiville@olchc.ie.
8
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland. Electronic address: Timothy.OBrien@nuigalway.ie.

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.

PMID:
31765965
DOI:
10.1016/j.scr.2019.101650
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