Work

Generation of a human PBMC induced pluripotent stem cell line JXEYi001-A-iPSC from a pediatric patient with ventricular arrhythmias

Year: 2025

Type: article

Abstract: This study established an iPSC line, JXEYi001-A, from a 7-year-old male with a KCNJ2 mutation linked to ventricular arrhythmias (VA). KCNJ2 encodes Kir2.1, essential for cardiac repolarization; its mutations can cause short QT syndrome, increasing VA risk. Derived from PBMCs using Sendai virus, the line expresses pluripotency markers (OCT4, SOX2, NANOG, SSEA4) and has a normal male karyotype. Sanger sequencing confirmed the heterozygous c.431G > A (p.Gly144Asp) mutation. This iPSC line aids in studying KCNJ2-related cardiac diseases, personalized medicine, and drug screening, advancing targeted therapies for VA.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103815

Authors: Yunguo Zhou, Yang Shen, Keyu Jiang, Fei Xu, Junkai Duan, Jinzhu Hu

Institutions: Nanchang University, Jiangxi Provincial Children's Hospital, Second Affiliated Hospital of Nanchang University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360