ID   AG07768
AC   CVCL_T877
DR   CLO; CLO_0032633
DR   Coriell; AG07768
DR   Wikidata; Q54741152
RX   CelloPub=CLPUB00597;
RX   PubMed=8247227;
RX   PubMed=21900357;
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=21900357; 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_T878 ! AG07767
SX   Female
AG   30Y6M
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 16
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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).
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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=21900357; DOI=10.1093/hmg/ddr394;
RA   Yagi T., Ito D., Okada Y., Akamatsu W., Nihei Y., Yoshizaki T.,
RA   Yamanaka S., Okano H., Suzuki N.;
RT   "Modeling familial Alzheimer's disease with induced pluripotent stem
RT   cells.";
RL   Hum. Mol. Genet. 20:4530-4539(2011).
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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).
//