Cellosaurus logo
expasy logo

Cellosaurus GM22606 (CVCL_BU80)

[Text version]
Cell line name GM22606
Accession CVCL_BU80
Resource Identification Initiative To cite this cell line use: GM22606 (RRID:CVCL_BU80)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Ile256Tyrfs*7 (c.766delA); ClinVar=VCV000101146; Zygosity=Unspecified (Coriell=GM22606).
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_BU81 ! GM22607
Sex of cell Female
Age at sampling 44Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22606
Encyclopedic resources Wikidata; Q54852659
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11