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Cellosaurus GM21508 (CVCL_HK91)

[Text version]
Cell line name GM21508
Accession CVCL_HK91
Resource Identification Initiative To cite this cell line use: GM21508 (RRID:CVCL_HK91)
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; p.Gly252Val (c.755G>T); ClinVar=VCV000101156; Zygosity=Unspecified (Coriell=GM21508).
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_HK90 ! GM21507
Sex of cell Male
Age at sampling 26Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21508
Encyclopedic resources Wikidata; Q54851954
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12