ID   UEFi003-A
AC   CVCL_A9QA
SY   MADGIC 12B
DR   hPSCreg; UEFi003-A
DR   Wikidata; Q102115053
RX   PubMed=32911327;
CC   From: University of Eastern Finland; Kuopio; Finland.
CC   Population: Caucasian; Finnish.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Ala673Thr (c.2017G>A); ClinVar=VCV000037145; Zygosity=Heterozygous (PubMed=32911327).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32911327; DOI=10.1016/j.scr.2020.101968;
RA   Rolova T., Wu Y.-C., Koskuvi M., Voutilainen J., Sonninen T.-M.,
RA   Kuusisto J., Laakso M., Hamalainen R.H., Koistinaho J., Lehtonen S.;
RT   "Generation of a human induced pluripotent stem cell line (UEFi003-A)
RT   carrying heterozygous A673T variant in amyloid precursor protein
RT   associated with a reduced risk of Alzheimer's disease.";
RL   Stem Cell Res. 48:101968-101968(2020).
//