ID   Lymph4-AD2-iPS
AC   CVCL_IK95
SY   AD2-4 iPSC
DR   SKIP; SKIP003220
DR   Wikidata; Q54608717
RX   PubMed=27789408;
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=27789408).
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   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=27789408; DOI=10.1016/j.scr.2016.10.005;
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 female
RT   67-year-old Alzheimer's disease patient with TREM2 (R47H) missense
RT   mutation.";
RL   Stem Cell Res. 17:553-555(2016).
//