Establishment of a human induced pluripotent stem cell line, KSCBi015-A, from a long QT syndrome type 1 patient harboring a KCNQ1 mutation

Summary

Long QT syndrome type 1 (LQT1) is a genetic cardiac disorder caused by a loss-of-function mutation in the KCNQ1 gene. In this study, we generated a human induced stem cell line (KSCBi015-A) from an LQT1 patient with a heterozygous mutation located in the KCNQ1 gene, c.569G > A. The KSCBi015-A cell line showed the maintenance of stem cell-like morphology, normal karyotype, and pluripotency, and could differentiate into three germ layers in vitro. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lee Y, Park H, Kyung Koo S, Kim JH
Journal Stem cell research
Publication Date 2021 Sep 2;56:102521
PubMed 34509919
DOI 10.1016/j.scr.2021.102521

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