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Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-02-27 , DOI: 10.1016/j.scr.2020.101734
Han-Yi Lin , Li-Kai Tsai , Yu-Che Cheng , Huai-En Lu , Ching-Ying Huang , Patrick C.H. Hsieh , Chin-Hsien Lin

A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) gene causes a heterogeneous neurodegenerative disorder that includes amyotrophic lateral sclerosis (ALS), frontotemporal degeneration (FTD), and parkinsonism. Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a male patient with an increased hexanucleotide repeat expansion in C9orf72. The resulting iPSCs exhibited pluripotency, confirmed by immunofluorescent staining for pluripotency markers, and differentiated into three germ layers in vivo. This cellular model will provide a useful platform for further pathophysiological studies of C9orf72-related neurodegeneration.



中文翻译:

从患有 C9orf72 基因的六核苷酸重复扩增突变的 ALS 和帕金森病患者中产生人类诱导多能干细胞 (iPSC) 系 (IBMS-iPSC-048-05)。

染色体 9 开放阅读框 72 ( C9orf72 ) 基因中的六核苷酸重复扩增导致异质性神经退行性疾病,包括肌萎缩侧索硬化症 (ALS)、额颞叶变性 (FTD) 和帕金森症。在这里,我们使用仙台病毒传递系统从一名男性患者的外周血单核细胞中生成诱导多能干细胞 (iPSC),该患者的C9orf72中六核苷酸重复扩增增加。由此产生的 iPSCs 表现出多能性,通过多能性标记的免疫荧光染色证实,并在体内分化成三个胚层。该细胞模型将为C9orf72的进一步病理生理学研究提供有用的平台相关的神经变性。

更新日期:2020-02-27
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