Department of Biotechnology
inStem (Institute for Stem Cell Science and Regenerative Medicine)

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

Publication Type

Research Support, Non-U.S. Gov't

Date of Publication

January 1, 2019

Journal

Stem cell research

Volume/Issue

34

ISSN

1876-7753

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.

Alternate Journal

Stem Cell Res

PubMed ID

30634129

Authors

Henriette R Frederiksen
Bjørn Holst
Sarayu Ramakrishna
Ravi Muddashetty
Benjamin Schmid
Kristine Freude

Keywords

Amyloid beta-Protein Precursor
Heterozygote
Adolescent
Base Sequence
Cell Culture Techniques
Male
Humans
Induced Pluripotent Stem Cells
Mutation
Cell Line