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Cellosaurus GM22753 (CVCL_BU95)

[Text version]
Cell line name GM22753
Accession CVCL_BU95
Resource Identification Initiative To cite this cell line use: GM22753 (RRID:CVCL_BU95)
Comments Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly177_Pro194del (c.582+5G>A) (IVS8+5G>A); ClinVar=VCV000101425; Zygosity=Unspecified (Coriell=GM22753).
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_BU94 ! GM22752
Sex of cell Female
Age at sampling 47Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22753
Encyclopedic resources Wikidata; Q54852778
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11