ID   HVRDi002-A
AC   CVCL_JV25
SY   hFAD-2 clone a; fAD2; fAD-2A; TYP2-fADa
DR   hPSCreg; HVRDi002-A
DR   SKIP; SKIP001348
DR   WiCell; hvrdi002-a
DR   Wikidata; Q54896948
RX   PubMed=24524897;
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=24524897).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C146894; Familial Alzheimer's disease, type 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_JV26 ! HVRDi002-A-1
SX   Female
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 29-06-23; Version: 13
//
RX   PubMed=24524897; DOI=10.1093/hmg/ddu064;
RA   Muratore C.R., Rice H.C., Srikanth P., Callahan D.G., Shin T.,
RA   Benjamin L.N.P., Walsh D.M., Selkoe D.J., Young-Pearse T.L.;
RT   "The familial Alzheimer's disease APPV717I mutation alters APP
RT   processing and Tau expression in iPSC-derived neurons.";
RL   Hum. Mol. Genet. 23:3523-3536(2014).
//