ID   AG08446
AC   CVCL_4K58
DR   CLO; CLO_0034245
DR   Coriell; AG08446
DR   Wikidata; Q54741991
RX   CelloPub=CLPUB00597;
RX   PubMed=10408806;
RX   PubMed=24416243;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Met146Leu (c.436A>C); ClinVar=VCV000018123; Zygosity=Unspecified (PubMed=10408806; 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_4K57 ! AG08445
SX   Male
AG   38Y1M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; 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   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).
//
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).
//