从一名3型脊髓小脑共济失调患者中生成诱导多能干细胞系（ZZUi037-A）。
Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3.
作者信息
Cheng Yunan, Sun Huifang, Chen Xiaolei, Li Xinyu, Xu Yuming, Wang Yanlin
机构信息
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China.
出版信息
Stem Cell Res. 2024 Dec;81:103617. doi: 10.1016/j.scr.2024.103617. Epub 2024 Nov 22.
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant degenerative disease that causes progressive cerebellar ataxia due to abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene, leading to abnormal accumulation of PolyQ to form neuronal nuclear inclusions. Currently, there is no effective treatment for it. Here, we obtained dermal fibroblasts from a patient and induced pluripotent stem cells (iPSCs) were successfully obtained by non-integrated reprogramming techniques. This cell line maintains typical pluripotent markers and mutation sequences of with normal karyotype. This provides resources for further research on the pathogenesis and treatment of SCA3.
3型脊髓小脑共济失调（SCA3）是一种常染色体显性退行性疾病，由于ATXN3基因中胞嘧啶 - 腺嘌呤 - 鸟嘌呤（CAG）三核苷酸重复序列异常扩增，导致进行性小脑共济失调，进而导致多聚谷氨酰胺异常积累，形成神经元核内包涵体。目前，尚无有效的治疗方法。在此，我们从一名患者身上获取了皮肤成纤维细胞，并通过非整合重编程技术成功获得了诱导多能干细胞（iPSC）。该细胞系维持典型的多能性标志物以及具有正常核型的突变序列。这为进一步研究SCA3的发病机制和治疗提供了资源。
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