ID   HHUUKDi003-A
AC   CVCL_VE83
SY   AD-TREM2-1; AD TREM2-1
DR   hPSCreg; HHUUKDi003-A
DR   SKIP; SKIP003218
DR   Wikidata; Q54887505
RX   PubMed=29602048;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; 17761; TREM2; Simple; p.Arg47His (c.140G>A); ClinVar=VCV000195350; Zygosity=Heterozygous (PubMed=29602048).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C169104; Alzheimer's disease 17
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29602048; DOI=10.1016/j.scr.2018.03.011;
RA   Martins S., Yigit H., Bohndorf M., Graffmann N., Fiszl A.R., Wruck W.,
RA   Sleegers K., Van Broeckhoven C., Adjaye J.;
RT   "Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a
RT   67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H
RT   variant.";
RL   Stem Cell Res. 29:60-63(2018).
//