从一名在APP基因中携带D694N突变的阿尔茨海默病患者中生成诱导多能干细胞（iPSCs）IRMBi002 - A。
Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene.
作者信息
Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C
机构信息
Institute for Regenerative Medicine and Biotherapy (IRMB), Montpellier, France.
Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Neurology and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
出版信息
Stem Cell Res. 2019 May;37:101438. doi: 10.1016/j.scr.2019.101438. Epub 2019 Apr 15.
Induced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 58 year-old woman suffering from Alzheimer's disease and carrying a D694N mutation on Amyloid precursor protein (APP). Fibroblasts were reprogrammed into iPSC using the integration-free Sendai Virus which allows the expression of the Yamanaka factors. Verification of their pluripotency was achieved by demonstrating the expression of pluripotency markers and their differentiation potential into the three primary germ layers. The cells have the corresponding mutation and present a normal karyotype. The reported APP-D694N iPSC line may be used to model and study human AD pathology in vitro.
诱导多能干细胞（iPSC）由一名58岁患有阿尔茨海默病且淀粉样前体蛋白（APP）携带D694N突变的女性的皮肤成纤维细胞生成。使用无整合的仙台病毒将成纤维细胞重编程为iPSC，该病毒可使山中因子表达。通过证明多能性标志物的表达及其向三个原始胚层的分化潜能来实现对其多能性的验证。这些细胞具有相应的突变且核型正常。所报道的APP-D694N iPSC系可用于在体外模拟和研究人类AD病理学。
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