ID   Lymph2-AD2-iPS
AC   CVCL_AB84
SY   AD2-2 iPSC
DR   SKIP; SKIP003221
DR   Wikidata; Q54903366
RX   PubMed=27345793;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:17761; TREM2; Simple; p.Arg47His (c.140G>A); ClinVar=VCV000195350; Zygosity=Heterozygous (PubMed=27345793).
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   65Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=27345793; DOI=10.1016/j.scr.2015.12.017;
RA   Schroter F., Sleegers K., Cuyvers E., Bohndorf M., Wruck W.,
RA   Van Broeckhoven C., Adjaye J.;
RT   "Lymphoblast-derived integration-free iPS cell line from a 65-year-old
RT   Alzheimer's disease patient expressing the TREM2 p.R47H variant.";
RL   Stem Cell Res. 16:113-115(2016).
//