ID   AG07671
AC   CVCL_4P39
SY   AG 7671; AG07671A
DR   CLO; CLO_0032907
DR   Coriell; AG07671
DR   Wikidata; Q54741044
RX   CelloPub=CLPUB00597;
RX   Patent=US5773219;
RX   PubMed=8643543;
RX   PubMed=24416243;
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=24416243).
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_4P38 ! AG07670
SX   Male
AG   44Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
//
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).
//
RX   PubMed=24416243; DOI=10.1371/journal.pone.0084547; PMCID=PMC3885572;
RA   Sproul A.A., Jacob S., Pre D., Kim S.H., Nestor M.W.,
RA   Navarro-Sobrino M., Santa-Maria I., Zimmer M., Aubry S., Steele J.W.,
RA   Kahler D.J., Dranovsky A., Arancio O., Crary J.F., Gandy S.E.,
RA   Noggle S.A.;
RT   "Characterization and molecular profiling of PSEN1 familial
RT   Alzheimer's disease iPSC-derived neural progenitors.";
RL   PLoS ONE 9:E84547-E84547(2014).
//