Home > Publications Database > 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. > print

001     276819
005     20250318091450.0
024 7 _ |a 10.1016/j.scr.2025.103660
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024 7 _ |a 1873-5061
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037 _ _ |a DZNE-2025-00332
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Göttert, Ria
|b 0
245 _ _ |a 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.
260 _ _ |a Amsterdam [u.a.]
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520 _ _ |a 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.
536 _ _ |a 353 - Clinical and Health Care Research (POF4-353)
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650 _ 7 |a TREM2 protein, human
|2 NLM Chemicals
650 _ 7 |a Membrane Glycoproteins
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650 _ 7 |a Receptors, Immunologic
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Induced Pluripotent Stem Cells: metabolism
|2 MeSH
650 _ 2 |a Membrane Glycoproteins: genetics
|2 MeSH
650 _ 2 |a Membrane Glycoproteins: metabolism
|2 MeSH
650 _ 2 |a Receptors, Immunologic: genetics
|2 MeSH
650 _ 2 |a Receptors, Immunologic: metabolism
|2 MeSH
650 _ 2 |a Subacute Sclerosing Panencephalitis: genetics
|2 MeSH
650 _ 2 |a Subacute Sclerosing Panencephalitis: pathology
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Heterozygote
|2 MeSH
650 _ 2 |a Osteochondrodysplasias: genetics
|2 MeSH
650 _ 2 |a Osteochondrodysplasias: pathology
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Cell Line
|2 MeSH
650 _ 2 |a Lipodystrophy: genetics
|2 MeSH
650 _ 2 |a Lipodystrophy: pathology
|2 MeSH
650 _ 2 |a Cell Differentiation
|2 MeSH
700 1 _ |a Vallone, Valeria Fernandez
|b 1
700 1 _ |a Stachelscheid, Harald
|b 2
700 1 _ |a Metzger, Jakob Johannes
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700 1 _ |a Caedo, Cassandra Carao
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700 1 _ |a Buthut, Maria
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700 1 _ |a Prüss, Harald
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700 1 _ |a Endres, Matthias
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700 1 _ |a Schilling, Simone
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700 1 _ |a Gertz, Karen
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773 _ _ |a 10.1016/j.scr.2025.103660
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