%0 Journal Article
%A Schmitz, Anne S
%A Korneck, Milena
%A Raju, Janani
%A Lamsfus-Calle, Andrés
%A Daniel-Moreno, Alberto
%A Antony, Justin S
%A Mezger, Markus
%A Schöls, Ludger
%A Hauser, Stefan
%A Hayer, Stefanie N
%T Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.
%J Stem cell research
%V 69
%@ 1873-5061
%C Amsterdam [u.a.]
%I Elsevier
%M DZNE-2023-00388
%P 103066
%D 2023
%Z CC BY
%X 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.
%K Adult
%K Humans
%K Induced Pluripotent Stem Cells
%K Neurodegenerative Diseases: genetics
%K CRISPR-Cas Systems: genetics
%K Neuroglia
%K Leukoencephalopathies: genetics
%K Mutation
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:36947995
%R 10.1016/j.scr.2023.103066
%U https://pub.dzne.de/record/257319