Establishment of human-induced pluripotent stem cell GZHMCi0011-A from peripheral blood mononuclear cells from a volunteer with 14/63 CAG repeats of the ATXN3 mutation.

从具有 ATXN3 突变的 14 / 63 CAG 重复的志愿者的外周血单核细胞中建立人诱导的多能干细胞 GZHMCi0011 - A 。

• 影响指数: 1.587
• 发表时间: 2023 10 28
• 来源期刊: Stem Cell Res
• DOI: 10.1016/j.scr.2023.103190
• PMID: 37866221
• 文章类型: Journal Article
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Hongmei G,Xiaofang S,Bing S

Mesh: Humans; Induced Pluripotent Stem Cells / metabolism; Leukocytes, Mononuclear / metabolism; Ataxin-3 / genetics metabolism; Machado-Joseph Disease / genetics metabolism; Mutation / genetics; Volunteers; Repressor Proteins / genetics

Abstract

Spinocerebellar ataxia type 3 (SCA3) is a genetic degeneration disease of the nervous system with ataxia as the main clinical manifestation, and the most frequent subtype of SCA3 is known to be caused by CAG repeat expansions of more than 55 units in ATXN3. In this study, we used peripheral blood mononuclear cells (PBMCs) from a volunteer with 14/63 CAG repeats in ATXN3 to generate induced pluripotent stem cells (iPSCs), which will be a good model for studying SCA3.

摘要

脊髓小脑性共济失调3型(SCA3)是一种以共济失调为主要临床表现的神经系统遗传性变性疾病,SCA3的最常见亚型已知是由ATXN3中超过55个单位的CAG重复扩增引起的。在这项研究中,我们使用来自ATXN3中具有14/63CAG重复的志愿者的外周血单核细胞（PBMC）来产生诱导多能干细胞（iPSC），这将是研究SCA3的一个很好的模型。