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Cellosaurus GM21567 (CVCL_BT48)

[Text version]
Cell line name GM21567
Accession CVCL_BT48
Resource Identification Initiative To cite this cell line use: GM21567 (RRID:CVCL_BT48)
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.Arg1024Ter (c.3070C>T); ClinVar=VCV000101174; Zygosity=Heterozygous (Coriell=GM21567).
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_BT47 ! GM21566
Sex of cell Male
Age at sampling 51Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21567
Encyclopedic resources Wikidata; Q54851991
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13