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Cellosaurus GM21501 (CVCL_HK89)

[Text version]
Cell line name GM21501
Accession CVCL_HK89
Resource Identification Initiative To cite this cell line use: GM21501 (RRID:CVCL_HK89)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
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=GM21501).
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_HK88 ! GM21500
Sex of cell Male
Age at sampling 41Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21501
Encyclopedic resources Wikidata; Q54851948
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13