从一名患有成人起病的伴有轴突球状体和色素性神经胶质细胞的白质脑病（ALSP）患者身上生成诱导多能干细胞系：HIHCNi003-A。
Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.
作者信息
Hayer Stefanie Nicole, Schelling Yvonne, Hoeflinger Philip, Hauser Stefan, Schöls Ludger
机构信息
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
出版信息
Stem Cell Res. 2018 Jul;30:206-209. doi: 10.1016/j.scr.2018.06.011. Epub 2018 Jun 20.
An induced pluripotent stem cell line, HIHCNi003-A (iPSC-ALSP), was created from a skin biopsy of a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) caused by a heterozygous c.2512G>C, p.Val838Leu mutation in the CSF1R gene. Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-ALSP line exhibits chromosomal stability with conservation of the CSF1R mutation, expresses pluripotency markers and differentiates into endo-, meso-, and ectodermal cells in vitro.
诱导多能干细胞系HIHCNi003 - A（iPSC - ALSP），由一名患有成年起病的伴有轴突球状体和色素性神经胶质细胞的白质脑病（ALSP）患者的皮肤活检样本创建而成，该疾病由CSF1R基因中杂合的c.2512G>C、p.Val838Leu突变引起。使用携带hOCT4、hSOX2、hKLF4、hL - MYC和hLIN28的附加体质粒对皮肤成纤维细胞进行重编程。iPSC - ALSP系表现出染色体稳定性，同时保留了CSF1R突变，表达多能性标志物，并在体外分化为内胚层、中胚层和外胚层细胞。
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