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000276819 037__ $$aDZNE-2025-00332
000276819 041__ $$aEnglish
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000276819 1001_ $$aGöttert, Ria$$b0
000276819 245__ $$aGeneration of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
000276819 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2025
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000276819 520__ $$aNHD/PLOSL is an orphan disease characterized by progressive presenile dementia associated with recurrent fractures due to polycystic bone lesions. In this study, we generated the human induced pluripotent stem cell (hiPSC) line BIHi292-A from a 30-year-old women diagnosed with NHD/PLOSL, carrying two compound heterozygous frameshift mutations [c.313del (p.Ala105fs) and c.199del (p.His67fs)] in the TREM2 (triggering receptor expressed on myeloid cells 2) gene. BIHi292-A hiPSCs are karyotypically normal, express typical markers for the undifferentiated state and have pluripotent differentiation potential. BIHi292-A cells will provide a valuable tool for investigating pathogenic mechanisms of NHD/PLOSL and TREM2-related research questions.
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000276819 650_7 $$2NLM Chemicals$$aTREM2 protein, human
000276819 650_7 $$2NLM Chemicals$$aMembrane Glycoproteins
000276819 650_7 $$2NLM Chemicals$$aReceptors, Immunologic
000276819 650_2 $$2MeSH$$aHumans
000276819 650_2 $$2MeSH$$aFemale
000276819 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: metabolism
000276819 650_2 $$2MeSH$$aMembrane Glycoproteins: genetics
000276819 650_2 $$2MeSH$$aMembrane Glycoproteins: metabolism
000276819 650_2 $$2MeSH$$aReceptors, Immunologic: genetics
000276819 650_2 $$2MeSH$$aReceptors, Immunologic: metabolism
000276819 650_2 $$2MeSH$$aSubacute Sclerosing Panencephalitis: genetics
000276819 650_2 $$2MeSH$$aSubacute Sclerosing Panencephalitis: pathology
000276819 650_2 $$2MeSH$$aAdult
000276819 650_2 $$2MeSH$$aHeterozygote
000276819 650_2 $$2MeSH$$aOsteochondrodysplasias: genetics
000276819 650_2 $$2MeSH$$aOsteochondrodysplasias: pathology
000276819 650_2 $$2MeSH$$aMutation
000276819 650_2 $$2MeSH$$aCell Line
000276819 650_2 $$2MeSH$$aLipodystrophy: genetics
000276819 650_2 $$2MeSH$$aLipodystrophy: pathology
000276819 650_2 $$2MeSH$$aCell Differentiation
000276819 7001_ $$aVallone, Valeria Fernandez$$b1
000276819 7001_ $$aStachelscheid, Harald$$b2
000276819 7001_ $$aMetzger, Jakob Johannes$$b3
000276819 7001_ $$aCaedo, Cassandra Carao$$b4
000276819 7001_ $$0P:(DE-2719)9001872$$aButhut, Maria$$b5$$udzne
000276819 7001_ $$0P:(DE-2719)2810931$$aPrüss, Harald$$b6$$udzne
000276819 7001_ $$0P:(DE-2719)2811033$$aEndres, Matthias$$b7$$udzne
000276819 7001_ $$aSchilling, Simone$$b8
000276819 7001_ $$aGertz, Karen$$b9
000276819 773__ $$0PERI:(DE-600)2393143-7$$a10.1016/j.scr.2025.103660$$gVol. 83, p. 103660 -$$p103660$$tStem cell research$$v83$$x1873-5061$$y2025
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