诱导多能干细胞系（ZZUi036-A）的建立，该细胞系源自一名神经核内包涵体病患者的皮肤成纤维细胞，患者 NOTCH2NLC 基因中的 GGC 重复序列扩增。
Generation of an induced pluripotent stem cell line (ZZUi036-A) derived from skin fibroblasts of a Neuronal intranuclear inclusion disease patient with GGC repeat expansion in the NOTCH2NLC gene.
机构信息
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou 450052, Henan, China.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
出版信息
Stem Cell Res. 2022 Aug;63:102844. doi: 10.1016/j.scr.2022.102844. Epub 2022 Jun 15.
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by cognitive impairment, extrapyramidal symptoms, white matter lesions and muscle weakness. The cause of NIID is a repeat amplification of a GGC mutation in the 5 ' untranslated region (UTR) of the NOTCH2NLC gene. Using the non-integrating Sendai virus to deliver the Klf4, OCT3/4, SOX2 and C-MYC factors, fibroblasts obtained from a NIID patient were reprogrammed to generate an induced pluripotent stem cell (iPSC) line (ZZUi036-A). Our approach provided a resource for the investigation of the mechanism of the disease, drug research, cell transplantation and gene therapy.
神经元核内包涵体病（NIID）是一种神经退行性疾病，其特征是认知障碍、锥体外系症状、白质病变和肌肉无力。NIID 的病因是 NOTCH2NLC 基因 5'非翻译区（UTR）中 GGC 突变的重复扩增。使用非整合性仙台病毒传递 Klf4、OCT3/4、SOX2 和 C-MYC 因子，从 NIID 患者获得的成纤维细胞被重编程为产生诱导多能干细胞（iPSC）系（ZZUi036-A）。我们的方法为疾病机制的研究、药物研究、细胞移植和基因治疗提供了资源。
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