Generation of a human PBMC induced pluripotent stem cell line JXEYi001-A-iPSC from a pediatric patient with ventricular arrhythmias
Summary
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. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zhou Y, Shen Y, Jiang K, Xu F, Duan J, Hu J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Aug 22;88:103815 |
| PubMed | 40857798 |
| DOI | 10.1016/j.scr.2025.103815 |