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@ARTICLE{Gttert:276819,
      author       = {Göttert, Ria and Vallone, Valeria Fernandez and
                      Stachelscheid, Harald and Metzger, Jakob Johannes and Caedo,
                      Cassandra Carao and Buthut, Maria and Prüss, Harald and
                      Endres, Matthias and Schilling, Simone and Gertz, Karen},
      title        = {{G}eneration of a human induced pluripotent stem cell line
                      ({BIH}i292-{A}) from {PBMC}s of a female patient diagnosed
                      with {N}asu-{H}akola disease ({NHD})/polycystic
                      lipomembranous osteodysplasia with sclerosing
                      leukoencephalopathy ({PLOSL}) carrying a novel heterozygous
                      mutation in the {TREM}2 gene.},
      journal      = {Stem cell research},
      volume       = {83},
      issn         = {1873-5061},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2025-00332},
      pages        = {103660},
      year         = {2025},
      abstract     = {NHD/PLOSL is an orphan disease characterized by progressive
                      presenile dementia associated with recurrent fractures due
                      to polycystic bone lesions. In this study, we generated the
                      human induced pluripotent stem cell (hiPSC) line BIHi292-A
                      from a 30-year-old women diagnosed with NHD/PLOSL, carrying
                      two compound heterozygous frameshift mutations [c.313del
                      (p.Ala105fs) and c.199del (p.His67fs)] in the TREM2
                      (triggering receptor expressed on myeloid cells 2) gene.
                      BIHi292-A hiPSCs are karyotypically normal, express typical
                      markers for the undifferentiated state and have pluripotent
                      differentiation potential. BIHi292-A cells will provide a
                      valuable tool for investigating pathogenic mechanisms of
                      NHD/PLOSL and TREM2-related research questions.},
      keywords     = {Humans / Female / Induced Pluripotent Stem Cells:
                      metabolism / Membrane Glycoproteins: genetics / Membrane
                      Glycoproteins: metabolism / Receptors, Immunologic: genetics
                      / Receptors, Immunologic: metabolism / Subacute Sclerosing
                      Panencephalitis: genetics / Subacute Sclerosing
                      Panencephalitis: pathology / Adult / Heterozygote /
                      Osteochondrodysplasias: genetics / Osteochondrodysplasias:
                      pathology / Mutation / Cell Line / Lipodystrophy: genetics /
                      Lipodystrophy: pathology / Cell Differentiation / TREM2
                      protein, human (NLM Chemicals) / Membrane Glycoproteins (NLM
                      Chemicals) / Receptors, Immunologic (NLM Chemicals)},
      cin          = {AG Prüß / AG Endres},
      ddc          = {570},
      cid          = {I:(DE-2719)1810003 / I:(DE-2719)1811005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39879812},
      doi          = {10.1016/j.scr.2025.103660},
      url          = {https://pub.dzne.de/record/276819},
}