Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, China.
Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, China.
Stem Cell Res. 2023 Feb;66:102975. doi: 10.1016/j.scr.2022.102975. Epub 2022 Nov 14.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by CAG repeat mutations in the ATXN1 gene. In this study, we generated an induced pluripotent stem cell line (iPSC) by using non-integrating Sendai virus (SeV) from peripheral blood mononuclear cells(PBMCs)of SCA1 patient harboring a CAG repeat mutation in the ATXN1 gene. The induced patient-specific iPSC line with a normal karyotype and expresses pluripotent markers, it also shows differentiation totipotency and tridermogenesis in vitro. It may be an excellent model for studying spinocerebellar ataxia type 1 (SCA1) in vitro and will be beneficial for studying SCA1 pathogenesis and therapeutic intervention strategies.
脊髓小脑共济失调 1 型（SCA1）是一种常染色体显性遗传性神经退行性疾病，由 ATXN1 基因中的 CAG 重复突变引起。在这项研究中，我们使用非整合性的 Sendai 病毒（SeV）从携带 ATXN1 基因中 CAG 重复突变的 SCA1 患者的外周血单核细胞（PBMCs）中生成了诱导多能干细胞（iPSC）。该诱导的患者特异性 iPSC 系具有正常核型并表达多能标记物，它还显示出体外全能性和三胚层分化能力。它可能是研究体外脊髓小脑共济失调 1 型（SCA1）的优秀模型，将有助于研究 SCA1 的发病机制和治疗干预策略。
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