来自ALS患者的人诱导多能干细胞（SMUSHi006-A）携带FUS基因c.1126C >t突变。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-01 DOI:10.1016/j.scr.2024.103604

Chunyan Huang , Liying Qiu , Wenyan Zhou , Congwen Shao , Xichun Wang , Qiwen Zhang , Weilin Chen , Min Xiong , Min Huang , Mei Tang , Liangyu Zou , Xueqing Xu

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引用次数: 0

摘要

肌萎缩侧索硬化症（ALS）是一种进行性神经退行性疾病。已经鉴定出与als相关的四个主要基因——sod1、TARDBP、FUS和c9orf72，其中FUS基因表现出相当大的遗传异质性。我们的研究小组先前已经建立了一个诱导多能干细胞（iPS）细胞系，该细胞系在FUS基因中含有c.1562G > A突变。本研究的目的是建立另一种具有FUS基因致病性c.1126C > T突变的iPS细胞系。这项研究不仅旨在建立与FUS突变相关的ALS疾病模型，而且为潜在的治疗干预铺平道路。

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A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Four major genes associated with ALS—SOD1, TARDBP, FUS, and C9orf72—have been identified, with the fused in sarcoma (FUS) gene demonstrating considerable genetic heterogeneity. Our research group has previously established an induced pluripotent stem (iPS) cell line harboring the c.1562G > A mutation in the FUS gene. The objective of this study is to create another iPS cell line featuring the pathogenic c.1126C > T mutation in the FUS gene. This research aims not only to establish a disease model for ALS linked to FUS mutations but also to pave the way for 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.