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

Fengfeng Guo; Yaxun Sun; Hongkun Wang; Hao Wang; Jingjun Zhou; Hangping Fan; Jun Su; Tingyu Gong; Chenyang Jiang; Ping Liang

doi:10.1016/j.scr.2022.102813

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

Stem Cell Res. 2022 Jul:62:102813. doi: 10.1016/j.scr.2022.102813. Epub 2022 May 10.

Authors

Fengfeng Guo¹, Yaxun Sun², Hongkun Wang¹, Hao Wang³, Jingjun Zhou¹, Hangping Fan¹, Jun Su¹, Tingyu Gong¹, Chenyang Jiang⁴, Ping Liang⁵

Affiliations

¹ Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China.
² Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China.
³ Department of Prenatal Diagnosis (Screening) Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou 310008, China.
⁴ Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China. Electronic address: [email protected].
⁵ Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China. Electronic address: [email protected].

PMID: 35569348
DOI: 10.1016/j.scr.2022.102813

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Arrhythmias, Cardiac / metabolism
ERG1 Potassium Channel / genetics
ERG1 Potassium Channel / metabolism
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Long QT Syndrome* / metabolism
Mutation / genetics

Substances

ERG1 Potassium Channel
KCNH2 protein, human