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Cellosaurus GM25285 (CVCL_BX21)

[Text version]
Cell line name GM25285
Accession CVCL_BX21
Resource Identification Initiative To cite this cell line use: GM25285 (RRID:CVCL_BX21)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM25285).
  • Mutation; HGNC; HGNC:9479; LONP1; Simple; p.Arg721Gly (c.2161C>G); ClinVar=VCV000180657; Zygosity=Homozygous (Coriell=GM25285).
Disease CODAS syndrome (NCIt: C126744)
CODAS syndrome (ORDO: Orphanet_1458)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25285
Encyclopedic resources Wikidata; Q54853864
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12