从一名在早老素1（PSEN-1）中携带L150P突变的阿尔茨海默病患者身上诱导生成多能干细胞（iPSC）。
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.
作者信息
Tubsuwan Alisa, Pires Carlota, Rasmussen Mikkel A, Schmid Benjamin, Nielsen Jørgen E, Hjermind Lena E, Hall Vanessa, Nielsen Troels T, Waldemar Gunhild, Hyttel Poul, Clausen Christian, Kitiyanant Narisorn, Freude Kristine K, Holst Bjørn
机构信息
Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegaardsvej 7, Frederiksberg C 1870, Denmark.
出版信息
Stem Cell Res. 2016 Jan;16(1):110-2. doi: 10.1016/j.scr.2015.12.015. Epub 2015 Dec 28.
Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a 58-year old male with a L150P mutation in the presenilin 1 (PSEN-1) gene, which is responsible for the majority of familial cases of Alzheimer's disease (AD). The iPSCs were established by co-electroporation with episomal plasmids containing hOCT4, hSOX2, hL-MYC, hKLF4, hNANOG, hLIN28, and short hairpin RNA against TP53. The iPSCs contained the specific heterozygous mutation c.449C>T, had normal karyotype, expressed the expected pluripotency genes and displayed in vitro differentiation potential to the three germ layers. The iPSCs may be useful for studying familial AD pathology in vitro.
诱导多能干细胞（iPSC）由一名58岁男性的皮肤成纤维细胞生成，该男性的早老素1（PSEN-1）基因存在L150P突变，此突变是大多数家族性阿尔茨海默病（AD）病例的病因。通过与含有hOCT4、hSOX2、hL-MYC、hKLF4、hNANOG、hLIN28和针对TP53的短发夹RNA的附加体质粒共电穿孔来建立iPSC。这些iPSC含有特定的杂合突变c.449C>T，具有正常的核型，表达预期的多能性基因，并在体外显示出向三个胚层分化的潜力。这些iPSC可能有助于在体外研究家族性AD病理学。
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