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Cellosaurus GM22752 (CVCL_BU94)

[Text version]
Cell line name GM22752
Accession CVCL_BU94
Resource Identification Initiative To cite this cell line use: GM22752 (RRID:CVCL_BU94)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly177_Pro194del (c.582+5G>A) (IVS8+5G>A); ClinVar=VCV000101425; Zygosity=Unspecified (Coriell=GM22752).
Disease Ehlers-Danlos syndrome, type IV (NCIt: C125699)
Vascular Ehlers-Danlos syndrome (ORDO: Orphanet_286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_BU95 ! GM22753
Sex of cell Female
Age at sampling 47Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22752
Encyclopedic resources Wikidata; Q54852777
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11