Cellosaurus logo
expasy logo

Cellosaurus GM21500 (CVCL_HK88)

[Text version]
Cell line name GM21500
Accession CVCL_HK88
Resource Identification Initiative To cite this cell line use: GM21500 (RRID:CVCL_HK88)
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; c.997-2A>G (IVS15-2A>G) (p.Gly333_Lys350del+); ClinVar=VCV000101317; Zygosity=Unspecified; Note=Splice acceptor mutation (Coriell=GM21500).
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_HK89 ! GM21501
Sex of cell Male
Age at sampling 41Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21500
Encyclopedic resources Wikidata; Q54851947
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12