Cellosaurus cell line HHUUKDi003-A (CVCL

Cross-references
Cell line name	HHUUKDi003-A
Synonyms	AD-TREM2-1; AD TREM2-1
Accession	CVCL_VE83
Resource Identification Initiative	To cite this cell line use: HHUUKDi003-A (RRID:CVCL_VE83)
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=29602048).
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	67Y
Category	Induced pluripotent stem cell
Publications	PubMed=29602048; DOI=10.1016/j.scr.2018.03.011 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-TREM2-1 from a 67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant. Stem Cell Res. 29:60-63(2018)
Cell line databases/resources	hPSCreg; HHUUKDi003-A SKIP; SKIP003218
Encyclopedic resources	Wikidata; Q54887505
Entry history
Entry creation	14-May-2018
Last entry update	29-Jun-2023
Version number	9