ID   HHUUKDi004-A
AC   CVCL_VN16
SY   AD-TREM2-3; ISRM AD TREM2-3
DR   hPSCreg; HHUUKDi004-A
DR   Wikidata; Q94207196
RX   PubMed=29902745;
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=29902745).
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   74Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29902745; DOI=10.1016/j.scr.2018.05.018;
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-TREM2-3 from a
RT   74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H
RT   variant.";
RL   Stem Cell Res. 30:141-144(2018).
//