ID   PS1-2
AC   CVCL_T873
DR   SKIP; SKIP000198
DR   SKIP; SKIP001014
DR   Wikidata; Q54948410
RX   PubMed=21900357;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (PubMed=21900357).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_T877 ! AG07768
SX   Female
AG   30Y6M
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 15
//
RX   PubMed=21900357; DOI=10.1093/hmg/ddr394;
RA   Yagi T., Ito D., Okada Y., Akamatsu W., Nihei Y., Yoshizaki T.,
RA   Yamanaka S., Okano H., Suzuki N.;
RT   "Modeling familial Alzheimer's disease with induced pluripotent stem
RT   cells.";
RL   Hum. Mol. Genet. 20:4530-4539(2011).
//