Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9


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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Schmitz AS, Korneck M, Raju J, Lamsfus-Calle A, Daniel-Moreno A, Antony JS, Mezger M, Schöls L, Hauser S, Hayer SN
Journal Stem cell research
Publication Date 2023 Jun;69:103066
PubMed 36947995
DOI 10.1016/j.scr.2023.103066

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