Journal Article

DZNE-2023-00388

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.

Schmitz, A. S. (First author)DZNE* ; Korneck, M.DZNE* ; Raju, J.DZNE* ; Lamsfus-Calle, A. ; Daniel-Moreno, A. ; Antony, J. S. ; Mezger, M. ; Schöls, L.DZNE* ; Hauser, S.DZNE* ; Hayer, S. N. (Last author)DZNE*

2023
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.scr.2023.103066

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.

Keyword(s): Adult (MeSH) ; Humans (MeSH) ; Induced Pluripotent Stem Cells (MeSH) ; Neurodegenerative Diseases: genetics (MeSH) ; CRISPR-Cas Systems: genetics (MeSH) ; Neuroglia (MeSH) ; Leukoencephalopathies: genetics (MeSH) ; Mutation (MeSH)

Note: CC BY

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Contributing Institute(s):

1. Cell Biology of Neurologic Diseases (AG Jucker)
2. Clinical Neurogenetics (AG Schöls 1)

Research Program(s):

1. 352 - Disease Mechanisms (POF4-352) (POF4-352)
2. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2023

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