Journal Article

DZNE-2025-00332

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation 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.

Göttert, R. ; Vallone, V. F. ; Stachelscheid, H. ; Metzger, J. J. ; Caedo, C. C. ; Buthut, M.DZNE* ; Prüss, H.DZNE* ; Endres, M.DZNE* ; Schilling, S. ; Gertz, K.

2025
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.scr.2025.103660

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.

Keyword(s): Humans (MeSH) ; Female (MeSH) ; Induced Pluripotent Stem Cells: metabolism (MeSH) ; Membrane Glycoproteins: genetics (MeSH) ; Membrane Glycoproteins: metabolism (MeSH) ; Receptors, Immunologic: genetics (MeSH) ; Receptors, Immunologic: metabolism (MeSH) ; Subacute Sclerosing Panencephalitis: genetics (MeSH) ; Subacute Sclerosing Panencephalitis: pathology (MeSH) ; Adult (MeSH) ; Heterozygote (MeSH) ; Osteochondrodysplasias: genetics (MeSH) ; Osteochondrodysplasias: pathology (MeSH) ; Mutation (MeSH) ; Cell Line (MeSH) ; Lipodystrophy: genetics (MeSH) ; Lipodystrophy: pathology (MeSH) ; Cell Differentiation (MeSH) ; TREM2 protein, human ; Membrane Glycoproteins ; Receptors, Immunologic

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Contributing Institute(s):

1. Autoimmune Encephalopathies (AG Prüß)
2. Interdisciplinary Dementia Research (AG Endres)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2025

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