ID BIONi010-C-7 AC CVCL_II86 SY BIONi010-C Trem2 R47H DR BioSamples; SAMEA4454010 DR EBiSC; BIONi010-C-7 DR ECACC; 66540369 DR EGA; EGAS00001002755 DR hPSCreg; BIONi010-C-7 DR SKIP; SKIP002862 DR Wikidata; Q54796779 CC From: Bioneer A/S; Horsholm; Denmark. CC Population: African. CC Sequence variation: Mutation; HGNC; HGNC:17761; TREM2; Simple_edited; p.Arg47His (c.140G>A); ClinVar=VCV000195350; Zygosity=Homozygous; Note=By CRISPR/Cas9 (EBiSC=BIONi010-C-7). CC Omics: Genomics; Whole genome sequencing. CC Discontinued: ECACC; 66540369; true. CC Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C169104; Alzheimer's disease 17 DI ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_1E68 ! BIONi010-C SX Male AG 18Y CA Induced pluripotent stem cell DT Created: 01-12-16; Last updated: 10-04-25; Version: 17 //