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Cellosaurus GM22779 (CVCL_BV02)

[Text version]
Cell line name GM22779
Accession CVCL_BV02
Resource Identification Initiative To cite this cell line use: GM22779 (RRID:CVCL_BV02)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly939Asp (c.2816G>A); Zygosity=Heterozygous (Coriell=GM22779).
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_BV01 ! GM22778
Sex of cell Female
Age at sampling 36Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22779
Encyclopedic resources Wikidata; Q54852799
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12