Generation of a human embryonic stem cell line (WAe009-A-43) carrying a Long QT syndrome related mutation in KCNH2 gene

Summary

The hereditary Long QT syndrome (LQTS) is a life-threaten channelopathy of the heart characterized by prolonged QT intervals and predisposition to occur polymorphic ventricular tachyarrhythmias. LQTS type 2 is the second most prevalent type of LQTS and more than 200 putative disease-causing mutations have been identified for KCNH2. Herein, we have generated a human embryonic stem cell line (WAe009-A-43) carrying a LQTS related mutation in KCNH2 (WAe009-A-43). The WAe009-A-43 line maintained stem cell like morphology, pluripotency, normal karyotype and could differentiate into all three germ layers in vivo. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Wu X, Zhao Y, Wang X
Journal Stem cell research
Publication Date 2020 Sep 2;48:101976
PubMed 32911324
DOI 10.1016/j.scr.2020.101976

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