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

Stem Cell Res. 2023 Jun:69:103066. doi: 10.1016/j.scr.2023.103066. Epub 2023 Mar 11.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • CRISPR-Cas Systems / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukoencephalopathies* / genetics
  • Mutation
  • Neurodegenerative Diseases* / genetics
  • Neuroglia