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Cellosaurus GM22659 (CVCL_DN52)

[Text version]
Cell line name GM22659
Accession CVCL_DN52
Resource Identification Initiative To cite this cell line use: GM22659 (RRID:CVCL_DN52)
Comments Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2186; COL11A1; Simple; c.3816+1G>A (IVS50+1G>A); ClinVar=VCV000039776; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM22659).
Disease Marshall syndrome (NCIt: C128115)
Marshall syndrome (ORDO: Orphanet_560)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22659
Encyclopedic resources Wikidata; Q54852701
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12