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Stem Cell Res. 2019 Mar;35:101403. doi: 10.1016/j.scr.2019.101403. Epub 2019 Feb 7.

Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.

Author information

1
Stem Cells and Modeling of Neurodegeneration, Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Grønnegardsvej 7, 1870C, Frederiksberg, Denmark.
2
Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
3
Institute of Medical Genetics and Applied Genomics, Division of Cytogenetics, Calwerstrasse 7, University of Tuebingen, 72076, Germany.
4
Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark. Electronic address: bsc@bioneer.dk.

Abstract

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.

PMID:
30769329
DOI:
10.1016/j.scr.2019.101403
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