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@ARTICLE{Schmitz:257319,
author = {Schmitz, Anne S and Korneck, Milena and Raju, Janani and
Lamsfus-Calle, Andrés and Daniel-Moreno, Alberto and
Antony, Justin S and Mezger, Markus and Schöls, Ludger and
Hauser, Stefan and Hayer, Stefanie N},
title = {{G}eneration of a heterozygous and a homozygous {CSF}1{R}
knockout line from i{PSC} using {CRISPR}/{C}as9.},
journal = {Stem cell research},
volume = {69},
issn = {1873-5061},
address = {Amsterdam [u.a.]},
publisher = {Elsevier},
reportid = {DZNE-2023-00388},
pages = {103066},
year = {2023},
note = {CC BY},
abstract = {Mutations in Colony-stimulating factor 1 receptor (CSF1R)
lead to CSF1R-related leukoencephalopathy, also known as
Adult-onset leukoencephalopathy with axonal spheroids and
pigmented glia (ALSP), a rapidly progressing
neurodegenerative disease with severe cognitive and motor
impairment. In this study, a homozygous and a heterozygous
CSF1R knockout induced pluripotent stem cell (iPSC) line
were generated by CRISPR/Cas9-based gene editing. These in
vitro models will provide a helpful tool for investigating
the still largely unknown pathophysiology of CSF1R-related
leukoencephalopathy.},
keywords = {Adult / Humans / Induced Pluripotent Stem Cells /
Neurodegenerative Diseases: genetics / CRISPR-Cas Systems:
genetics / Neuroglia / Leukoencephalopathies: genetics /
Mutation},
cin = {AG Jucker / AG Schöls 1},
ddc = {570},
cid = {I:(DE-2719)1210001 / I:(DE-2719)5000005},
pnm = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36947995},
doi = {10.1016/j.scr.2023.103066},
url = {https://pub.dzne.de/record/257319},
}