Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation


Long QT syndrome (LQT) is an inherited primary arrhythmic disorder characterized by prolonged QT interval on the surface electrocardiogram and life-threatening arrhythmia. In this study, a skin biopsy was obtained from an LQT type 2 (LQT2) patient, who carried a nonsense mutation (c.1956C > A; p.Y652X) in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. The skin fibroblasts were reprogrammed by non-integrated Sendai viral method to generate a patient-specific induced pluripotent stem cell (iPSC) line. The generated iPSC line showed typical embryonic stem cell-like morphology, exhibited normal karyotype, expressed pluripotency markers, and was capable to differentiate into three germ layers. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Guo F, Sun Y, Wang H, Wang H, Zhou J, Fan H, Su J, Gong T, Jiang C, Liang P
Journal Stem cell research
Publication Date 2022 Jul;62:102813
PubMed 35569348
DOI 10.1016/j.scr.2022.102813

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