Generation of a KCNQ1 (c.1032 + 2 T > C) mutant human embryonic stem cell line via CRISPR base editing

Xiaodong Jiang; Chong Fu; Qiying Liu; Jiaqi Gao

doi:10.1016/j.scr.2024.103425

Generation of a KCNQ1 (c.1032 + 2 T > C) mutant human embryonic stem cell line via CRISPR base editing

Stem Cell Res. 2024 Apr 21:77:103425. doi: 10.1016/j.scr.2024.103425. Online ahead of print.

Authors

Xiaodong Jiang¹, Chong Fu², Qiying Liu¹, Jiaqi Gao³

Affiliations

¹ Anatomy Teaching and Research Office of the Department of Basic Medicine, ZhengZhou Health Vocational College, Zhengzhou 450100, China.
² Henan Institute of Metrology, No.10 Baifo Road, Guancheng District, Zhengzhou 450008, China.
³ Cancer Center, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China. Electronic address: jqgwhu@163.com.

PMID: 38653148
DOI: 10.1016/j.scr.2024.103425

Abstract

The KCNQ1 gene encodes a voltage-gated potassium channel, which plays an important role in the repolarization of myocardial action potentials. Mutations in this gene often result in type 1 long QT syndrome (LQT1). Here, we generated a KCNQ1 (c.1032 + 2 T > C) mutant human embryonic stem cell line (WAe009-A-1D) based on the transient expression adenine base editing system that converts base A to G. The WAe009-A-1D cell maintains the morphology, pluripotency, and normal karyotype of the stem cells and is capable of differentiating into all three germ layers in vivo.