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Cellosaurus AG08523 (CVCL_4K72)

[Text version]
Cell line name AG08523
Accession CVCL_4K72
Resource Identification Initiative To cite this cell line use: AG08523 (RRID:CVCL_4K72)
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_4K71 ! AG08522
Sex of cell Male
Age at sampling 43Y
Category Finite cell line
Publications

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)

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)

Cross-references
Cell line collections (Providers) Coriell; AG08523
Cell line databases/resources CLO; CLO_0034335
Encyclopedic resources Wikidata; Q54742156
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number12