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Cellosaurus AG13518 (CVCL_4P94)

[Text version]
Cell line name AG13518
Accession CVCL_4P94
Resource Identification Initiative To cite this cell line use: AG13518 (RRID:CVCL_4P94)
Comments Part of: Canadian Alzheimer disease kindred subcollection.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
Sex of cell Male
Age at sampling 38Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; AG13518
Encyclopedic resources Wikidata; Q54744994
Entry history
Entry creation22-Sep-2015
Last entry update02-May-2024
Version number12