小儿室性心律失常患者PBMC诱导多能干细胞系JXEYi001-A-iPSC的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-22 DOI:10.1016/j.scr.2025.103815

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

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引用次数: 0

摘要

这项研究建立了一个iPSC系，JXEYi001-A，来自一名7岁的男性，其KCNJ2突变与室性心律失常（VA）有关。KCNJ2编码心脏复极所必需的Kir2.1；它的突变会导致短QT综合征，增加室性心动过速的风险。该细胞系来源于仙台病毒的PBMCs，表达多能性标记（OCT4、SOX2、NANOG、SSEA4），具有正常的男性核型。Sanger测序证实了c.431G > A （p.Gly144Asp）杂合突变。该iPSC系有助于研究kcnj2相关的心脏疾病，个性化医疗和药物筛选，推进VA的靶向治疗。

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

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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.