Generation of KCNH2 heterozygous knockout induced pluripotent stem cell (iPSC) line (Long and Short QT Syndrome)

Baiqiang Wang; Qian Ren; Xiaomeng Cui; Wei Shan; Xiangge Guo; Xumeng Wang; Jiaxuan Wang; Yanting Li; Guipeng An

doi:10.1016/j.scr.2024.103400

Generation of KCNH2 heterozygous knockout induced pluripotent stem cell (iPSC) line (Long and Short QT Syndrome)

Stem Cell Res. 2024 Mar 26:77:103400. doi: 10.1016/j.scr.2024.103400. Online ahead of print.

Authors

Baiqiang Wang¹, Qian Ren², Xiaomeng Cui³, Wei Shan⁴, Xiangge Guo⁵, Xumeng Wang⁵, Jiaxuan Wang⁵, Yanting Li⁵, Guipeng An⁶

Affiliations

¹ Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese Ministry of Health and Chinese Academy of Medical Sciences, The State and Shandong Province Joint Key Laboratory of Translational Cardiovascular Medicine, Qilu Hospital of Shandong University, Jinan 100034, PR China; Department of Cardiology, Qilu Hospital of Shandong University, Jinan 100034, PR China.
² Department of Human Anatomy, Hebei Medical University, Shijiazhuang 050017, PR China; International Cooperation Laboratory of Stem Cell Research, Institute of Medical and Health Science, Hebei Medical University, Shijiazhuang 050017, PR China; Hebei Research Center for Stem Cell Medical Translational Engineering, Shijiazhuang 050017, PR China.
³ Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; Department of Neurology, Zibo city Hospital Combined of Traditional chinese and Western medicine, Zibo 255000, PR China.
⁴ Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China.
⁵ Department of Human Anatomy, Hebei Medical University, Shijiazhuang 050017, PR China; International Cooperation Laboratory of Stem Cell Research, Institute of Medical and Health Science, Hebei Medical University, Shijiazhuang 050017, PR China.
⁶ Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese Ministry of Health and Chinese Academy of Medical Sciences, The State and Shandong Province Joint Key Laboratory of Translational Cardiovascular Medicine, Qilu Hospital of Shandong University, Jinan 100034, PR China; Department of Cardiology, Qilu Hospital of Shandong University, Jinan 100034, PR China. Electronic address: 1141691910@qq.com.

PMID: 38547667
DOI: 10.1016/j.scr.2024.103400

Abstract

KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action potential. Mutations in this gene can cause long QT syndrome and short QT syndrome. Transcript variants encoding distinct isoforms were also identified. In this study, we generated induced pluripotent stem cells (iPSC) from a healthy individual by electroporation of peripheral blood mononuclear cells and generated a KCNH2 heterozygous knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had a normal karyotype, were free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.