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Cellosaurus AG08166 (CVCL_X848)

[Text version]
Cell line name AG08166
Accession CVCL_X848
Resource Identification Initiative To cite this cell line use: AG08166 (RRID:CVCL_X848)
Comments Part of: Canadian Alzheimer disease kindred subcollection.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (from inference of kindred).
Disease Alzheimer's disease 3 (NCIt: C123412)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_X847 ! AG08165
Sex of cell Female
Age at sampling 27Y4M
Category Finite cell line
Publications

PubMed=8247227; DOI=10.1016/0197-4580(93)90103-i
McCoy K.R., Mullins R.D., Newcomb T.G., Ng G.M., Pavlinkova G., Polinsky R.J., Nee L.E., Sisken J.E.
Serum- and bradykinin-induced calcium transients in familial Alzheimer's fibroblasts.
Neurobiol. Aging 14:447-455(1993)

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

Cross-references
Cell line collections (Providers) Coriell; AG08166
Cell line databases/resources CLO; CLO_0033701
Encyclopedic resources Wikidata; Q54741712
Entry history
Entry creation05-Sep-2014
Last entry update02-May-2024
Version number12