ID   NYSCF-AD-1021-AG08446-Skin-RV-IPSC1
AC   CVCL_AD16
DR   SKIP; SKIP004870
DR   Wikidata; Q54931388
RX   PubMed=24416243;
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Met146Leu (c.436A>C); ClinVar=VCV000018123; Zygosity=Unspecified (PubMed=24416243).
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_4K58 ! AG08446
SX   Male
AG   38Y1M
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
//
RX   PubMed=24416243; DOI=10.1371/journal.pone.0084547; PMCID=PMC3885572;
RA   Sproul A.A., Jacob S., Pre D., Kim S.H., Nestor M.W.,
RA   Navarro-Sobrino M., Santa-Maria I., Zimmer M., Aubry S., Steele J.W.,
RA   Kahler D.J., Dranovsky A., Arancio O., Crary J.F., Gandy S.E.,
RA   Noggle S.A.;
RT   "Characterization and molecular profiling of PSEN1 familial
RT   Alzheimer's disease iPSC-derived neural progenitors.";
RL   PLoS ONE 9:E84547-E84547(2014).
//