Generation of a human induced pluripotent stem cell line (JSPHi002-A) from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T mutation

Qing Wang; Yike Zhang; Feng Zhang; Zhaomin Li; Hongyi Cheng; Yongping Lin; Yue Zhu; Hongwu Chen; Chang Cui; Minglong Chen

doi:10.1016/j.scr.2022.102810

Generation of a human induced pluripotent stem cell line (JSPHi002-A) from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T mutation

Stem Cell Res. 2022 Jul:62:102810. doi: 10.1016/j.scr.2022.102810. Epub 2022 May 10.

Authors

Affiliations

¹ Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China.
² Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China. Electronic address: cuichang@njmu.edu.cn.
³ Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China. Electronic address: chenminglong@njmu.edu.cn.

PMID: 35580545
DOI: 10.1016/j.scr.2022.102810

Abstract

We generated an iPSCs line from the peripheral blood mononuclear cells (PBMCs) collected from a patient with long QT syndrome type 1 (LQT1) via a non-integrating system. We identified and verified a missense mutation in the KCNQ1 gene (c.773A > T) by whole-exome sequencing and Sanger sequencing. The established iPSC line was tested for pluripotency, differentiation potential, and karyotype. This cell-based model can help study the molecular mechanism and develop personalized drug therapies for LQT1.

Publication types

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

MeSH terms

Humans
Induced Pluripotent Stem Cells* / metabolism
KCNQ1 Potassium Channel / genetics
KCNQ1 Potassium Channel / metabolism
Leukocytes, Mononuclear / metabolism
Mutation / genetics
Romano-Ward Syndrome* / genetics
Romano-Ward Syndrome* / metabolism

Substances

KCNQ1 Potassium Channel
KCNQ1 protein, human