ID   AG06848
AC   CVCL_D534
SY   AG6848; AG06848A; AG 6848A; AG06848B; AG 6848B; AG06848C
DR   CLO; CLO_0035464
DR   ChEMBL-Cells; CHEMBL3308626
DR   ChEMBL-Targets; CHEMBL614700
DR   Coriell; AG06848
DR   PubChem_Cell_line; CVCL_D534
DR   Wikidata; Q54740417
RX   CelloPub=CLPUB00597;
RX   Patent=US5773219;
RX   PubMed=7847674;
RX   PubMed=8247227;
RX   PubMed=8643543;
RX   PubMed=8832629;
RX   PubMed=10408806;
CC   Part of: Canadian Alzheimer disease kindred subcollection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Heterozygous (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_F229 ! AG06849
SX   Female
AG   55Y6M
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 20
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994).
//
RX   Patent=US5773219;
RA   Sanford K.K., Parshad R., Robbins J.H.;
RT   "Process for detecting Alzheimer disease using cultured cells.";
RL   Patent number US5773219, 30-Jun-1998.
//
RX   PubMed=7847674; DOI=10.1111/j.1749-6632.1994.tb44413.x;
RA   Etcheberrigaray R., Gibson G.E., Alkon D.L.;
RT   "Molecular mechanisms of memory and the pathophysiology of Alzheimer's
RT   disease.";
RL   Ann. N. Y. Acad. Sci. 747:245-255(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).
//
RX   PubMed=8643543; DOI=10.1073/pnas.93.10.5146;
RA   Parshad R., Sanford K.K., Price F.M., Melnick L.K., Nee L.E.,
RA   Schapiro M.B., Tarone R.E., Robbins J.H.;
RT   "Fluorescent light-induced chromatid breaks distinguish Alzheimer
RT   disease cells from normal cells in tissue culture.";
RL   Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996).
//
RX   PubMed=8832629; DOI=10.1016/0197-4580(96)00074-7;
RA   Hirashima N., Etcheberrigaray R., Bergamaschi S., Racchi M.,
RA   Battaini F., Binetti G., Govoni S., Alkon D.L.;
RT   "Calcium responses in human fibroblasts: a diagnostic molecular
RT   profile for Alzheimer's disease.";
RL   Neurobiol. Aging 17:549-555(1996).
//
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).
//