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@ARTICLE{Korneck:268793,
      author       = {Korneck, Milena and Leonhardt, A. and Schöls, L. and
                      Hauser, S.},
      title        = {{G}eneration of homozygous and heterozygous {REEP}1
                      knockout induced pluripotent stem cell lines by
                      {CRISPR}/{C}as9 gene editing},
      journal      = {Stem cell research},
      volume       = {77},
      issn         = {1873-5061},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2024-00336},
      pages        = {103378},
      year         = {2024},
      abstract     = {REEP1 is a transmembrane protein in the endoplasmic
                      reticulum (ER) membrane that is involved in shaping and
                      remodeling of the ER. Mutations in REEP1 cause SPG31, an
                      autosomal dominant form of hereditary spastic paraplegia
                      (HSP). Here we show the generation of a homozygous and a
                      heterozygous REEP1 knockout induced pluripotent stem cell
                      line suitable for in vitro disease modelling using the
                      CRISPR/Cas9 editing system.},
      keywords     = {Induced Pluripotent Stem Cells: metabolism / CRISPR-Cas
                      Systems / Gene Editing / Humans / Homozygote / Heterozygote
                      / Cell Line / Gene Knockout Techniques},
      cin          = {AG Hauser / AG Schöls},
      ddc          = {570},
      cid          = {I:(DE-2719)1210016 / 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:38479332},
      doi          = {10.1016/j.scr.2024.103378},
      url          = {https://pub.dzne.de/record/268793},
}