ID AG06844 AC CVCL_F257 SY AG 6844B; AG06844C; AG 6844C; AG06844D DR CLO; CLO_0035537 DR Coriell; AG06844 DR Wikidata; Q54740411 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; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; 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_F258 ! AG07647 SX Male AG 59Y1M CA Finite cell line DT Created: 22-10-12; Last updated: 19-12-24; Version: 19 // 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 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; PMCID=PMC39422; 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.M., 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). //