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Cellosaurus AG08527 (CVCL_4K76)

[Text version]
Cell line name AG08527
Synonyms AG08527A
Accession CVCL_4K76
Resource Identification Initiative To cite this cell line use: AG08527 (RRID:CVCL_4K76)
Comments Part of: German Alzheimer disease kindred subcollection.
Population: Caucasian; German.
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.Leu286Val (c.856C>G); ClinVar=VCV000018126; Zygosity=Unspecified (PubMed=10408806).
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_4K75 ! AG08526
Sex of cell Male
Age at sampling 61Y
Category Finite cell line

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)

PubMed=8832629; DOI=10.1016/0197-4580(96)00074-7
Hirashima N., Etcheberrigaray R., Bergamaschi S., Racchi M., Battaini F., Binetti G., Govoni S., Alkon D.L.
Calcium responses in human fibroblasts: a diagnostic molecular profile for Alzheimer's disease.
Neurobiol. Aging 17:549-555(1996)

PubMed=10408806; DOI=10.1006/nbdi.1999.0236
Geller L.N., Potter H.
Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease.
Neurobiol. Dis. 6:167-179(1999)

Cell line collections (Providers) Coriell; AG08527
Cell line databases/resources CLO; CLO_0034347
Encyclopedic resources Wikidata; Q54742165
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number11