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@ARTICLE{Bianchini:292103,
      author       = {L. Bianchini$^*$ and L. Sieber$^*$ and R. Hammad and R.
                      Schäfer and L. Kutscher$^*$},
      title        = {{G}eneration of two isogenic patient-derived human-induced
                      pluripotent stem cell clones with 6q27 deletion.},
      journal      = {Stem cell research},
      volume       = {80},
      issn         = {1873-5061},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2024-01602},
      pages        = {103524},
      year         = {2024},
      note         = {#EA:B430#LA:B430#},
      abstract     = {We generated two human induced pluripotent cell (hiPSC)
                      isogenic clones from an 11-year-old patient with 6q27
                      deletion syndrome. The heterozygous deletion encompasses
                      approximately 240 kilobases, affecting 6 genes (promoter
                      region of WDR27, coding regions of C6orf120, PHF10, DYNLT2,
                      ERMARD, LINC00242). The patient suffered from epilepsy,
                      psychosocial retardation, and a metabolic disorder. The
                      patient also had a history of SHH-medulloblastoma as an
                      infant. The generated hiPSCs represent a useful tool for
                      modelling 6q27 deletion syndrome in vitro and understanding
                      the molecular basis of the disorder.},
      cin          = {B430},
      ddc          = {570},
      cid          = {I:(DE-He78)B430-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39106599},
      doi          = {10.1016/j.scr.2024.103524},
      url          = {https://inrepo02.dkfz.de/record/292103},
}