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; 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: 02-05-24; Version: 12
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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   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).
//