ID   IMEDEAi006-A
AC   CVCL_WK45
SY   iPS 322AD CL7
DR   hPSCreg; IMEDEAi006-A
DR   Wikidata; Q94316126
RX   PubMed=31026686;
CC   From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Glu280Ala (c.839A>C); ClinVar=VCV000018131; Zygosity=Heterozygous (PubMed=31026686).
CC   Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=31026686; DOI=10.1016/j.scr.2019.101440;
RA   Vallejo-Diez S., Fleischer A., Martin-Fernandez J.M.,
RA   Sanchez-Gilabert A., Castresana M., Aguillon D., Villegas A.,
RA   Mastronardi C.A., Espinosa L.G., Arcos-Burgos M., del Pozo A.,
RA   Herran E., Gainza E., Isaza-Ruget M., Lopera F., Bachiller D.;
RT   "Generation of one iPSC line (IMEDEAi006-A) from an early-onset
RT   familial Alzheimer's disease (fAD) patient carrying the E280A mutation
RT   in the PSEN1 gene.";
RL   Stem Cell Res. 37:101440-101440(2019).
//