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Article

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

Stem cell research - 1 Jun 2023

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

Abstract excerpt

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...

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PMID: 36947995
DOI: 10.1016/j.scr.2023.103066

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