ID   PS2-1
AC   CVCL_T875
DR   GEO; GSM701544
DR   SKIP; SKIP000196
DR   SKIP; SKIP001015
DR   Wikidata; Q54948413
RX   PubMed=21900357;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:9509; PSEN2; Simple; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous (PubMed=21900357).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_T872 ! AG09908
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 16
//
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).
//