人胚肾细胞系 UMICHe001-A/UM134-1 衍生的脊髓小脑共济失调 3 型人胚胎干细胞系。
Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1.
机构信息
Department of Neurology, 109 Zina Pitcher Place, University of Michigan, Ann Arbor, MI 48109, United States; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, United States.
MStem Cell Laboratories, University of Michigan, Ann Arbor, MI 48109, United States.
出版信息
Stem Cell Res. 2022 Oct;64:102873. doi: 10.1016/j.scr.2022.102873. Epub 2022 Jul 26.
The most common autosomal dominant ataxia worldwide, spinocerebellar ataxia type 3 (SCA3) is a fatal, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the ATXN3 gene. Here we report the generation of human embryonic stem cell (hESC) line UM134-1, the first SCA3 disease-specific hESC line to be added to the NIH hESC registry. UM134-1 pluripotency was confirmed by immunocytochemistry and PCR for pluripotency markers and by the ability to form three germ layers in vitro. The established hESC line provides a useful new human cell model to study the pathogenesis of SCA3.
世界上最常见的常染色体显性共济失调症，脊髓小脑性共济失调 3 型（SCA3）是一种致命的、进行性的神经退行性疾病，由 ATXN3 基因中的 CAG 三核苷酸重复扩展引起。在这里，我们报告了人类胚胎干细胞（hESC）系 UM134-1 的产生，这是第一个被添加到 NIH hESC 注册中心的 SCA3 疾病特异性 hESC 系。UM134-1 的多能性通过免疫细胞化学和多能性标志物的 PCR 以及体外形成三个胚层的能力得到确认。已建立的 hESC 系为研究 SCA3 的发病机制提供了一个有用的新的人类细胞模型。
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