Cellosaurus cell line HHUUKDi004-A (CVCL_VN16)

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Cell line name	HHUUKDi004-A
Synonyms	AD-TREM2-3; ISRM AD TREM2-3
Accession	CVCL_VN16
Resource Identification Initiative	To cite this cell line use: HHUUKDi004-A (RRID:CVCL_VN16)
Comments	From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 17761; TREM2; Simple; p.Arg47His (c.140G>A); ClinVar=VCV000195350; Zygosity=Heterozygous (PubMed=29902745).
Disease	Alzheimer's disease 17 (NCIt: C169104) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	74Y
Category	Induced pluripotent stem cell
Publications	PubMed=29902745; DOI=10.1016/j.scr.2018.05.018 Martins S., Yigit H., Bohndorf M., Graffmann N., Fiszl A.R., Wruck W., Sleegers K., Van Broeckhoven C., Adjaye J. Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant. Stem Cell Res. 30:141-144(2018)
Cell line databases/resources	hPSCreg; HHUUKDi004-A
Encyclopedic resources	Wikidata; Q94207196
Entry history
Entry creation	07-Sep-2018
Last entry update	29-Jun-2023
Version number	8