ID   UEFi001-A
AC   CVCL_VK75
SY   MADGIC 4A
DR   hPSCreg; UEFi001-A
DR   Wikidata; Q98133866
RX   PubMed=29807259;
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=29807259).
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   65Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29807259; DOI=10.1016/j.scr.2018.05.014;
RA   Lehtonen S., Hoytylainen I., Voutilainen J., Sonninen T.-M.,
RA   Kuusisto J., Laakso M., Hamalainen R.H., Oksanen M., Koistinaho J.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   patient with a rare A673T variant in amyloid precursor protein gene
RT   that reduces the risk for Alzheimer's disease.";
RL   Stem Cell Res. 30:96-99(2018).
//