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

TY - JOUR

T1 - Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene

AU - Frederiksen, Henriette R.

AU - Holst, Bjørn

AU - Ramakrishna, Sarayu

AU - Muddashetty, Ravi

AU - Schmid, Benjamin

AU - Freude, Kristine

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.scr.2018.101368

DO - 10.1016/j.scr.2018.101368

M3 - Journal article

C2 - 30634129

AN - SCOPUS:85059568355

SN - 1873-5061

VL - 34

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101368

ER -