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诱导多能干细胞系 ICGi033-A 的建立,通过对亨廷顿病患者外周血单个核细胞进行重编程。

Generation of induced pluripotent stem cell line, ICGi033-A, by reprogramming peripheral blood mononuclear cells from a patient with Huntington's disease.

机构信息

Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; E. Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.

Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; E. Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.

出版信息

Stem Cell Res. 2022 Aug;63:102868. doi: 10.1016/j.scr.2022.102868. Epub 2022 Jul 13.

DOI:10.1016/j.scr.2022.102868
PMID:35872525
Abstract

Huntington's disease (HD) is a hereditary autosomal dominant neurodegenerative disease caused by the polyglutamine stretch expansion in the huntingtin (HTT) protein. In HD, dysregulation of multiple cellular processes occurs, resulting in the death of medium spiny neurons of striatum. A line of induced pluripotent stem cells (iPSCs) ICGi033-A was obtained from peripheral blood mononuclear cells of a patient carrying 77 CAG repeats in the HTT gene. The iPSCs express pluripotency markers, have a normal karyotype, and differentiate into three germ layers: endoderm, ectoderm, mesoderm.

摘要

亨廷顿病(HD)是一种遗传性常染色体显性神经退行性疾病,由亨廷顿蛋白(HTT)中的多聚谷氨酰胺延伸引起。在 HD 中,多种细胞过程的失调发生,导致纹状体中间神经元的死亡。从携带 HTT 基因 77 个 CAG 重复的患者的外周血单核细胞中获得了诱导多能干细胞(iPSC)ICGi033-A。iPSC 表达多能性标记物,具有正常核型,并分化为三个胚层:内胚层、外胚层和中胚层。

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