Frederiksen Henriette R, Holst Bjørn, Mau-Holzmann Ulrike A, Freude Kristine, Schmid Benjamin
Stem Cells and Modeling of Neurodegeneration, Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Grønnegardsvej 7, 1870C, Frederiksberg, Denmark.
Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
Stem Cell Res. 2019 Mar;35:101403. doi: 10.1016/j.scr.2019.101403. Epub 2019 Feb 7.
Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. Here, we report the generation of two isogenic iPSC lines with either a homozygous or a heterozygous E280A mutation in the PSEN1 gene. The mutation was introduced into an iPSC line from a healthy individual using the CRISPR-Cas9 technology. Resource table.
阿尔茨海默病（AD）是最常见的痴呆形式。已知编码早老素1的PSEN1基因突变会导致早发型家族性AD。PSEN1基因最常见的突变是E280A突变。诱导多能干细胞（iPSC）是AD建模的最佳选择，因为它们可以在体外分化为神经细胞。在此，我们报告了两个在PSEN1基因中具有纯合或杂合E280A突变的同基因iPSC系的产生。使用CRISPR-Cas9技术将该突变引入来自健康个体的iPSC系中。资源表。
