Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9
oleh: Anne S. Schmitz, Milena Korneck, Janani Raju, Andrés Lamsfus-Calle, Alberto Daniel-Moreno, Justin S. Antony, Markus Mezger, Ludger Schöls, Stefan Hauser, Stefanie N. Hayer
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-06-01 |
Deskripsi
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.