Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1gene


Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of an eight months-old boy and the parents. Long QT syndrome type 5 (LQT5) was diagnosed after identifying a heterozygous c.226G>A (p.D76N) variant in KCNE1 gene carried by the boy and inherited from his father who has a prolonged QT in ECG as well. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry KCNE1-D76N mutation, have a normal karyotype. Thus we established 2 new LQT5 iPSC lines and a related control line as useful tools for studying the pathophysiological mechanism of LQT5 and drug testing. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhang Y, Li H, Wang J, Wang G, Tan X, Lei M
Journal Stem cell research
Publication Date 2020 May;45:101798
PubMed 32344329
DOI 10.1016/j.scr.2020.101798

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