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Cellosaurus GM28303 (CVCL_D6XD)

[Text version]
Cell line name GM28303
Accession CVCL_D6XD
Resource Identification Initiative To cite this cell line use: GM28303 (RRID:CVCL_D6XD)
Comments Population: Caucasian; Dutch.
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.Glu383Gly (c.1148A>G) (p.Glu356Gly, c.1067A>G); ClinVar=VCV000097822; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28303).
Disease Blau syndrome (NCIt: C116794)
Blau syndrome (ORDO: Orphanet_90340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6XE ! GM28304
Sex of cell Male
Age at sampling 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28303
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2