Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene


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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Frederiksen HR, Holst B, Ramakrishna S, Muddashetty R, Schmid B, Freude K
Journal Stem cell research
Publication Date 2019 Jan;34:101368
PubMed 30634129
DOI 10.1016/j.scr.2018.101368

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