Vallejo-Diez Sara, Fleischer Aarne, Martín-Fernández Jose María, Sánchez-Gilabert Almudena, Castresana Mónica, Aguillón David, Villegas Andrés, Mastronardi Claudio A, Espinosa Lady G, Arcos-Burgos Mauricio, Del Pozo Ángel, Herrán Enara, Gainza Eusebio, Isaza-Ruget Mario, Lopera Francisco, Bachiller Daniel
Consejo Superior de Investigaciones Científicas (CSIC/IMEDEA), Miguel Marqués 21, 07190 Esporles, Spain.
Karuna Good Cell Technologies SL, C/Cercas Bajas 13 Bajo, 01001 Vitoria-Gasteiz, Alava, Spain.
Stem Cell Res. 2019 May;37:101440. doi: 10.1016/j.scr.2019.101440. Epub 2019 Apr 15.
The mutation E280A in PSEN1 (presenilin-1) is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and frequently leads to the manifestation of the disease in relatively young individuals. Here we report the generation of one PSEN1 E280A iPSC line derived from an early-onset patient. OriP/EBNA1-based episomal plasmids containing OCT3/4, SOX2, KLF4, L-MYC, LIN28, BCL-xL and shp53 were used to reprogram oral mucosa fibroblasts. The iPSC line generated has normal karyotype, carry the E280A mutation, is free of plasmid integration, express high levels of pluripotency markers and can differentiate into all three germ layers.
早发性家族性阿尔茨海默病（fAD）最常见的病因是早老素1（PSEN1）基因中的E280A突变。它呈常染色体显性遗传，常导致相对年轻个体发病。在此，我们报告了从一名早发性患者获得的一株PSEN1 E280A诱导多能干细胞（iPSC）系。使用基于OriP/EBNA1的附加体质粒，其包含OCT3/4、SOX2、KLF4、L-MYC、LIN28、BCL-xL和shp53，对口腔黏膜成纤维细胞进行重编程。所产生的iPSC系具有正常核型，携带E280A突变，无质粒整合，表达高水平的多能性标志物，并且能够分化为所有三个胚层。
