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Stem Cell Res. 2019 Jan;34:101368. doi: 10.1016/j.scr.2018.101368. Epub 2018 Dec 24.

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

Author information

1
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.
2
Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
3
Institute for Stem Cell Biology and Regenerative Medicine, Bangalore, India.
4
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. Electronic address: kkf@sund.ku.dk.

Abstract

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.

PMID:
30634129
DOI:
10.1016/j.scr.2018.101368
[Indexed for MEDLINE]
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