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Cellosaurus GM28304 (CVCL_D6XE)

[Text version]
Cell line name GM28304
Accession CVCL_D6XE
Resource Identification Initiative To cite this cell line use: GM28304 (RRID:CVCL_D6XE)
Comments Population: Caucasian; Dutch.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
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=GM28304).
Disease Blau syndrome (NCIt: C116794)
Blau syndrome (ORDO: Orphanet_90340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6XD ! GM28303
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28304
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2