ID   AG08166
AC   CVCL_X848
DR   CLO; CLO_0033701
DR   Coriell; AG08166
DR   Wikidata; Q54741712
RX   CelloPub=CLPUB00597;
RX   PubMed=8247227;
CC   Part of: Canadian Alzheimer disease kindred subcollection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (from inference of kindred).
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_X847 ! AG08165
SX   Female
AG   27Y4M
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 13
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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=8247227; DOI=10.1016/0197-4580(93)90103-i;
RA   McCoy K.R., Mullins R.D., Newcomb T.G., Ng G.M., Pavlinkova G.,
RA   Polinsky R.J., Nee L.E., Sisken J.E.;
RT   "Serum- and bradykinin-induced calcium transients in familial
RT   Alzheimer's fibroblasts.";
RL   Neurobiol. Aging 14:447-455(1993).
//