Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.
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Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene. / Frederiksen, Henriette Reventlow S; Holst, Bjørn; Mau-Holzmann, Ulrike A.; Freude, Kristine; Schmid, Benjamin.
I: Stem Cell Research, Bind 35, 101403, 03.2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
VL - 35
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101403
ER -
ID: 214576005