Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome


Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two LQT2 patients carrying pathogenic variants (c.1714G > A and c.2960del) and one LQT2 patient carrying a variant of uncertain significance (c.1870A > T) in KCNH2. All lines show typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and differentiate into three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of LQTS caused by caused by KCNH2 mutations. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Mondéjar-Parreño G, Jahng JWS, Belbachir N, Wu BC, Zhang X, Perez MV, Badhwar N, Wu JC
Journal Stem cell research
Publication Date 2021 Jul;54:102402
PubMed 34051449
PubMed Central PMC10875632
DOI 10.1016/j.scr.2021.102402

Research Projects

Cell Lines