ID AG07613 AC CVCL_4N94 SY AG07613A; AG 7613A; AG07613B DR CLO; CLO_0032828 DR Coriell; AG07613 DR Wikidata; Q54740874 RX CelloPub=CLPUB00597; RX Patent=US5773219; RX PubMed=8643543; CC Part of: Canadian Alzheimer disease kindred subcollection. CC Population: Caucasian. CC Doubling time: Slow growth (Coriell=AG07613). CC Karyotypic information: 46,XY,inv(Y)(pter->p11.2::q12->p11.2::q12->qter) (Coriell=AG07613). 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_4N95 ! AG07614 SX Male AG 66Y CA Finite cell line DT Created: 22-09-15; Last updated: 19-12-24; Version: 13 // 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=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). //