ID   AG08527
AC   CVCL_4K76
SY   AG08527A
DR   CLO; CLO_0034347
DR   Coriell; AG08527
DR   Wikidata; Q54742165
RX   CelloPub=CLPUB00597;
RX   PubMed=8832629;
RX   PubMed=10408806;
CC   Part of: German Alzheimer disease kindred subcollection.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Leu286Val (c.856C>G); ClinVar=VCV000018126; 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)
OI   CVCL_4K75 ! AG08526
SX   Male
AG   61Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 11
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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   PubMed=8832629; DOI=10.1016/0197-4580(96)00074-7;
RA   Hirashima N., Etcheberrigaray R., Bergamaschi S., Racchi M.,
RA   Battaini F.M., Binetti G., Govoni S., Alkon D.L.;
RT   "Calcium responses in human fibroblasts: a diagnostic molecular
RT   profile for Alzheimer's disease.";
RL   Neurobiol. Aging 17:549-555(1996).
//
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).
//