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Stem Cell Res. 2019 Aug;39:101502. doi: 10.1016/j.scr.2019.101502. Epub 2019 Jul 26.

Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B).

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
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland. Electronic address: Timothy.OBrien@nuigalway.ie.
8
National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. Electronic address: Terence.Prendiville@olchc.ie.

Abstract

Long QT Syndrome type 1 (LQT1), an inherited cardiac ion channelopathy associated with arrhythmias and risk of sudden death, is caused by mutations in KCNQ1 encoding the α-subunit of Kv7.1, that affects the slow component of delayed rectifier K+ current (IKs) channel. In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C>A (p.S566Y) mutation from familial LQT1 patients. The patient-specific iPSC lines harbouring the c.1697C>A mutation expressed pluripotency markers and had the capacity to differentiate into three germ layers.

PMID:
31415974
DOI:
10.1016/j.scr.2019.101502
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