Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1.
Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1.
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DOI：
10.1016/j.scr.2022.102873
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发表时间：
2022-10
影响因子：
1.2
通讯作者：
Smith, Gary D.
中科院分区：
文献类型：
--
作者：
Moore, Lauren R.;Keller, Laura;Paulson, Henry L.;Smith, Gary D.
脊髓小脑性共济失调3型（SCA3）是世界上最常见的常染色体显性共济失调，是一种致命的进行性神经退行性疾病，由ATXN3基因CAG三核苷酸重复扩增引起。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登记处的SCA3疾病特异性hESC系。UM134-1的多能性通过免疫细胞化学和PCR的多能性标记以及在体外形成三种胚层的能力得到证实。建立的hESC细胞系为研究SCA3的发病机制提供了一种有用的新的人细胞模型。
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.
影响因子：
1.2
作者：
Moore, Lauren R.;Keller, Laura;Paulson, Henry L.
通讯作者：
Paulson, Henry L.