Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene
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Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene. / Frederiksen, Henriette R.; Holst, Bjørn; Ramakrishna, Sarayu; Muddashetty, Ravi; Schmid, Benjamin; Freude, Kristine.
In: Stem Cell Research, Vol. 34, 101368, 01.01.2019.Research output: Contribution to journal › Journal article › Research › peer-review
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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
VL - 34
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101368
ER -
ID: 211945396