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 stud...

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Published inStem cell research Vol. 69; p. 103066
Main Authors Schmitz, Anne S., Korneck, Milena, Raju, Janani, Lamsfus-Calle, Andrés, Daniel-Moreno, Alberto, Antony, Justin S., Mezger, Markus, Schöls, Ludger, Hauser, Stefan, Hayer, Stefanie N.
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.06.2023
Elsevier
Subjects
Adult
CRISPR-Cas Systems - genetics
Humans
Induced Pluripotent Stem Cells
Leukoencephalopathies - genetics
Mutation
Neurodegenerative Diseases - genetics
Neuroglia
Online AccessGet full text
ISSN1873-5061
1876-7753
1876-7753
DOI10.1016/j.scr.2023.103066

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Summary: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.
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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2023.103066