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Cellosaurus GM22609 (CVCL_BU83)

[Text version]
Cell line name GM22609
Accession CVCL_BU83
Resource Identification Initiative To cite this cell line use: GM22609 (RRID:CVCL_BU83)
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.Ile256Tyrfs*7 (c.766delA); ClinVar=VCV000101146; Zygosity=Unspecified (Coriell=GM22609).
Disease Ehlers-Danlos syndrome, type IV (NCIt: C125699)
Neurofibromatosis type 1 (NCIt: C3273)
Vascular Ehlers-Danlos syndrome (ORDO: Orphanet_286)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_BU82 ! GM22608
Sex of cell Female
Age at sampling 47Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22609
Encyclopedic resources Wikidata; Q54852662
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11