从携带NOTCH2NLC基因GGC重复扩增的神经元核内包涵病患者中产生诱导多能干细胞系(HZSMHCi002-A

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-06-28 DOI:10.1016/j.scr.2025.103761

Xinyi Ren , Chuqing Zhou , Youhui Jiang , Jun Zhao , Xiaoyi Tina , Naxin Xu , Mengshan Fu , Peiyan Ni , Tao Li , Xiaoying Zhang

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引用次数: 0

摘要

NOTCH2NLC基因在其5 '非翻译区包含一个GGC重复扩增。这种扩张与神经元核内包涵病（NIID）有关。NIID是一种罕见的神经退行性疾病。其临床特征包括认知能力下降、阵发性症状和自主神经功能障碍。我们从一位女性患者的pbmc中获得了一个诱导多能干细胞（iPSC）系，该细胞系在NOTCH2NLC中具有高GGC重复扩增。iPSC系表现出典型的多能性形态。它表达了关键的多能性标记，并在畸胎瘤试验中显示出分化潜力。该细胞系为研究疾病机制和制定治疗策略提供了有用的模型。

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Generation of an induced pluripotent stem cell line (HZSMHCi002-A) from a patient with neuronal intranuclear inclusion disease carrying GGC repeat expansion in the NOTCH2NLC gene

The NOTCH2NLC gene contains a GGC repeat expansion in its 5′ untranslated region. This expansion is associated with neuronal intranuclear inclusion disease (NIID). NIID is a rare neurodegenerative disorder. Its clinical features include cognitive decline, paroxysmal symptoms, and autonomic dysfunction. We generated an induced pluripotent stem cell (iPSC) line from a female patient’s PBMCs carrying a high GGC repeat expansion in NOTCH2NLC. The iPSC line displayed typical pluripotent morphology. It expressed key pluripotency markers and demonstrated differentiation potential in teratoma assays. This cell line serves as a useful model for studying disease mechanisms and developing therapeutic strategies.

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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.