TY  - JOUR
AU  - Göttert, Ria
AU  - Vallone, Valeria Fernandez
AU  - Stachelscheid, Harald
AU  - Metzger, Jakob Johannes
AU  - Caedo, Cassandra Carao
AU  - Buthut, Maria
AU  - Prüss, Harald
AU  - Endres, Matthias
AU  - Schilling, Simone
AU  - Gertz, Karen
TI  - 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.
JO  - Stem cell research
VL  - 83
SN  - 1873-5061
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DZNE-2025-00332
SP  - 103660
PY  - 2025
AB  - 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.
KW  - Humans
KW  - Female
KW  - Induced Pluripotent Stem Cells: metabolism
KW  - Membrane Glycoproteins: genetics
KW  - Membrane Glycoproteins: metabolism
KW  - Receptors, Immunologic: genetics
KW  - Receptors, Immunologic: metabolism
KW  - Subacute Sclerosing Panencephalitis: genetics
KW  - Subacute Sclerosing Panencephalitis: pathology
KW  - Adult
KW  - Heterozygote
KW  - Osteochondrodysplasias: genetics
KW  - Osteochondrodysplasias: pathology
KW  - Mutation
KW  - Cell Line
KW  - Lipodystrophy: genetics
KW  - Lipodystrophy: pathology
KW  - Cell Differentiation
KW  - TREM2 protein, human (NLM Chemicals)
KW  - Membrane Glycoproteins (NLM Chemicals)
KW  - Receptors, Immunologic (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39879812
DO  - DOI:10.1016/j.scr.2025.103660
UR  - https://pub.dzne.de/record/276819
ER  -