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@ARTICLE{Schmitz:257319,
      author       = {Schmitz, Anne S and Korneck, Milena and Raju, Janani and
                      Lamsfus-Calle, Andrés and Daniel-Moreno, Alberto and
                      Antony, Justin S and Mezger, Markus and Schöls, Ludger and
                      Hauser, Stefan and Hayer, Stefanie N},
      title        = {{G}eneration of a heterozygous and a homozygous {CSF}1{R}
                      knockout line from i{PSC} using {CRISPR}/{C}as9.},
      journal      = {Stem cell research},
      volume       = {69},
      issn         = {1873-5061},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2023-00388},
      pages        = {103066},
      year         = {2023},
      note         = {CC BY},
      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.},
      keywords     = {Adult / Humans / Induced Pluripotent Stem Cells /
                      Neurodegenerative Diseases: genetics / CRISPR-Cas Systems:
                      genetics / Neuroglia / Leukoencephalopathies: genetics /
                      Mutation},
      cin          = {AG Jucker / AG Schöls 1},
      ddc          = {570},
      cid          = {I:(DE-2719)1210001 / I:(DE-2719)5000005},
      pnm          = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
                      Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36947995},
      doi          = {10.1016/j.scr.2023.103066},
      url          = {https://pub.dzne.de/record/257319},
}