Frederiksen Henriette R, Holst Bjørn, Ramakrishna Sarayu, Muddashetty Ravi, Schmid Benjamin, Freude Kristine
Group of Stem Cells and Modeling of Neurodegeneration, Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark, Grønnegardsvej 7, 1870C Frederiksberg, Denmark.
Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
Stem Cell Res. 2019 Jan;34:101368. doi: 10.1016/j.scr.2018.101368. Epub 2018 Dec 24.
Alzheimer's disease (AD) is the most common form of dementia, affecting millions of people worldwide. Mutations in the genes PSEN1, PSEN2 or APP are known to cause familial forms of AD with an early age of onset. In this study, specific pathogenic mutations in the APP gene were introduced into an iPSC line from a healthy individual by the use of CRISPR-Cas9. The study resulted in the generation of two new cell lines, one carrying the V717I APP mutation and one with the KM670/671NL APP mutation.
阿尔茨海默病（AD）是最常见的痴呆形式，影响着全球数百万人。已知PSEN1、PSEN2或APP基因的突变会导致早发性家族性AD。在本研究中，通过使用CRISPR-Cas9将APP基因中的特定致病突变引入来自健康个体的诱导多能干细胞（iPSC）系。该研究产生了两个新的细胞系，一个携带V717I APP突变，另一个携带KM670/671NL APP突变。
