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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amyloid beta-Protein Precursor / genetics*
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Mutation / genetics*


  • Amyloid beta-Protein Precursor