ID   GM00364
AC   CVCL_2Z42
AS   CVCL_X759
SY   GM-364; GM00364D; AG00364; AG0364; AG-364; AG00364C; AG00364D; AG00364E
DR   CLO; CLO_0025557
DR   CLO; CLO_0036915
DR   Coriell; AG00364
DR   Coriell; GM00364
DR   Wikidata; Q54836181
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00597;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7253718;
RX   PubMed=8247227;
RX   PubMed=10408806;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Cys410Tyr (c.1229G>A); ClinVar=VCV000018127; 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)
SX   Male
AG   53Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das N.K., Murphy D.G.;
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//
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=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).
//