Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C
Institute for Regenerative Medicine and Biotherapy (IRMB), Montpellier, France; Université de Montpellier, UM, 163 Rue Auguste Broussonnet, 34090 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.
Stem Cell Res. 2019 Jan;34:101381. doi: 10.1016/j.scr.2018.101381. Epub 2019 Jan 3.
Induced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 50 year-old patient suffering from Alzheimer's disease and carrying a G217D causal mutation on presenilin 1 (PSEN1). iPSCs were obtained following reprogramming using the integration-free Sendai Virus system which allows 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. iPS cells carry the patient G217D mutation and present a normal karyotype. The reported PS1-G217D iPSC line may be used to model and study human AD pathology in vitro.
诱导多能干细胞（iPSC）由取自一名50岁阿尔茨海默病患者的皮肤成纤维细胞生成，该患者在早老素1（PSEN1）上携带G217D致病突变。使用无整合的仙台病毒系统进行重编程后获得了iPSC，该系统可表达山中因子。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验证。iPS细胞携带患者的G217D突变并呈现正常核型。所报道的PS1-G217D iPSC系可用于在体外模拟和研究人类AD病理学。
