脊髓和球部肌萎缩症（SBMA）疾病特异性人类胚胎干细胞（hESC）系 UMICHe002-A/UM197-1

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2024-09-07 DOI:10.1016/j.scr.2024.103548

Indri Erliandri , Agamjot Sangotra , Laura Keller , Andrew P. Lieberman , Gary D. Smith

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引用次数: 0

摘要

脊髓和球部肌肉萎缩症（SBMA）是一种 X 连锁神经肌肉系统退行性疾病，由雄激素受体（AR）基因中的 CAG/聚谷氨酰胺（polyQ）束扩大引起。这种基因突变会导致男性进行性肌肉无力和萎缩。在此，我们报告了在美国国立卫生研究院（NIH）胚胎干细胞（hESC）登记处建立的首个SBMA疾病特异性人类胚胎干细胞（hESC）系UM197-1。UM197-1 具有多能性，能在体外分化成三个胚层，为研究 SBMA 疾病的发病机制提供了一个新的细胞模型系统。

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A spinal and bulbar muscular atrophy (SBMA) disease-specific human embryonic stem cell (hESC) line, UMICHe002-A/UM197-1

Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked degenerative disorder of the neuromuscular system that is caused by an expanded CAG/polyglutamine (polyQ) tract within the Androgen Receptor (AR) gene. This mutation causes progressive muscle weakness and atrophy in men. Here, we report the establishment of the first SBMA disease-specific human embryonic stem cell (hESC) line in the NIH hESC registry, UM197-1. UM197-1 exhibits pluripotency, the ability to differentiate into three germ layers in vitro, and provides a new cellular model system to study SBMA disease pathogenesis.

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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.