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

TY - JOUR

T1 - Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.

AU - Frederiksen, Henriette Reventlow S

AU - Holst, Bjørn

AU - Mau-Holzmann, Ulrike A.

AU - Freude, Kristine

AU - Schmid, Benjamin

PY - 2019/3

Y1 - 2019/3

N2 - 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.

AB - 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.

U2 - 10.1016/j.scr.2019.101403

DO - 10.1016/j.scr.2019.101403

M3 - Journal article

C2 - 30769329

SN - 1873-5061

VL - 35

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101403

ER -