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Cellosaurus AG08563 (CVCL_4L08)

[Text version]
Cell line name AG08563
Synonyms AG08563A
Accession CVCL_4L08
Resource Identification Initiative To cite this cell line use: AG08563 (RRID:CVCL_4L08)
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_4L07 ! AG08562
Sex of cell Female
Age at sampling 37Y5M
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; AG08563
Cell line databases/resources CLO; CLO_0034423
Encyclopedic resources Wikidata; Q54742283
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number11