Li Tong, Pires Carlota, Nielsen Troels T, Waldemar Gunhild, Hjermind Lena E, Nielsen Jørgen E, Dinnyes Andras, Hyttel Poul, Freude Kristine K
Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
Stem Cell Res. 2016 Mar;16(2):229-32. doi: 10.1016/j.scr.2016.01.002. Epub 2016 Jan 14.
Skin fibroblasts were obtained from a 48-year-old presymptomatic woman carrying a A79V mutation in the presenilin 1 gene (PSEN1), causing Alzheimer's disease (AD). Induced pluripotent stem cell (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. A79V-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported A79V-iPSCs line may be a useful resource for in vitro modeling of familial AD.
皮肤成纤维细胞取自一名48岁的处于症状前期的女性，该女性携带早老素1基因（PSEN1）中的A79V突变，会导致阿尔茨海默病（AD）。通过用携带hOCT4、hSOX2、hKLF2、hL-MYC、hLIN28和shTP53基因的附加型载体转染，获得了诱导多能干细胞（iPSC）。A79V-iPSC没有基因组整合的重编程基因，有特定突变但无其他基因组异常，表达预期的多能性标志物，并在体外显示出向三个胚层分化的潜力。报道的A79V-iPSC系可能是用于家族性AD体外建模的有用资源。
