ID   AG08555
AC   CVCL_F260
DR   CLO; CLO_0034399
DR   Coriell; AG08555
DR   Wikidata; Q54742265
RX   CelloPub=CLPUB00597;
RX   PubMed=10408806;
CC   Part of: German Alzheimer disease kindred subcollection.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Leu286Val (c.856C>G); ClinVar=VCV000018126; Zygosity=Unspecified (PubMed=10408806).
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)
OI   CVCL_F259 ! AG08554
SX   Male
AG   49Y2M
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=10408806; DOI=10.1006/nbdi.1999.0236;
RA   Geller L.N., Potter H.;
RT   "Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's
RT   disease.";
RL   Neurobiol. Dis. 6:167-179(1999).
//