从一名 PRKN 基因突变的早发性帕金森病患者体内生成诱导多能干细胞系（HMSCATi004-A）

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2024-10-09 DOI:10.1016/j.scr.2024.103578

Jingke Cheng , Yingtong Zhai , Xiangge Guo , Xumeng Wang , Min Ma , Xin Ren , Shan Wang , Huixian Cui , Qian Ren

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引用次数: 0

摘要

Parkin（PRKN）被认为是早发性帕金森病（PD）的致病基因。诱导多能干细胞（iPSCs）来源于一名 29 岁的帕金森病患者，该患者携带杂合子 c.823C > T（p.R275W）变异和 PRKN 第 2-4 号外显子缺失。生成的 iPSCs 保持正常核型，表达多能性标记，并具有向三个生殖层分化的能力。该 iPSC 细胞系是研究早发性帕金森病发病机制和开发潜在治疗干预措施的重要细胞模型。

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Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson’s disease patient with PRKN gene mutation

Parkin (PRKN) is recognized as causative gene in early-onset Parkinson’s disease (PD). Induced pluripotent stem cells (iPSCs) were derived from a 29-year-old PD patient carrying a heterozygous c.823C > T (p.R275W) variant and an exon 2–4 deletion in PRKN. The Generated iPSCs maintain a normal karyotype, express pluripotency markers, and retain the ability to differentiate into the three germ layers. This iPSC line serves as a valuable cellular model for investigating the pathogenesis of early-onset PD and development of potential therapeutic interventions.

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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.