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Cellosaurus AG08541 (CVCL_4K88)

[Text version]
Cell line name AG08541
Synonyms AG08541A
Accession CVCL_4K88
Resource Identification Initiative To cite this cell line use: AG08541 (RRID:CVCL_4K88)
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 (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)
Sex of cell Female
Age at sampling 59Y3M
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)

Cross-references
Cell line collections (Providers) Coriell; AG08541
Cell line databases/resources CLO; CLO_0034380
Encyclopedic resources Wikidata; Q54742187
Entry history
Entry creation22-Sep-2015
Last entry update02-May-2024
Version number11