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

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Item Type:	Article
Title:	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
Creators Name:	Göttert, R., Vallone, V.F., Stachelscheid, H., Metzger, J.J., Caedo, C.C., Buthut, M., Prüss, H., Endres, M., Schilling, S. and Gertz, K.
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:	Cell Differentiation, Cell Line, Heterozygote, Immunologic Receptors, Induced Pluripotent Stem Cells, Lipodystrophy, Membrane Glycoproteins, Mutation, Osteochondrodysplasias, Subacute Sclerosing Panencephalitis
Source:	Stem Cell Research
ISSN:	1873-5061
Publisher:	Elsevier
Volume:	83
Page Range:	103660
Date:	March 2025
Official Publication:	https://doi.org/10.1016/j.scr.2025.103660
PubMed:	View item in PubMed

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