Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene
Summary
Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. Here, we report the generation of two isogenic iPSC lines with either a homozygous or a heterozygous E280A mutation in the PSEN1 gene. The mutation was introduced into an iPSC line from a healthy individual using the CRISPR-Cas9 technology. Resource table. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Frederiksen HR, Holst B, Mau-Holzmann UA, Freude K, Schmid B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Mar;35:101403 |
| PubMed | 30769329 |
| DOI | 10.1016/j.scr.2019.101403 |