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Cellosaurus GM28267 (CVCL_D3A9)

[Text version]
Cell line name GM28267
Accession CVCL_D3A9
Resource Identification Initiative To cite this cell line use: GM28267 (RRID:CVCL_D3A9)
Comments Population: Caucasian; Danish/German.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5331; NOD2; Simple; p.Arg334Trp (c.1000C>T) (p.Arg307Trp, c.919C>T); ClinVar=VCV000004696; Zygosity=Heterozygous (Coriell=GM28267).
Disease Blau syndrome (NCIt: C116794)
Blau syndrome (ORDO: Orphanet_90340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28267
Encyclopedic resources Wikidata; Q127380914
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3