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Cellosaurus GM21459 (CVCL_HK85)

[Text version]
Cell line name GM21459
Accession CVCL_HK85
Resource Identification Initiative To cite this cell line use: GM21459 (RRID:CVCL_HK85)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2209; COL5A1; Simple; p.Gly721Argfs*5 (c.2159dupC) (c.2160insC); ClinVar=VCV000213029; Zygosity=Unspecified (Coriell=GM21459).
Disease Ehlers-Danlos syndrome, type I (NCIt: C125696)
Classical Ehlers-Danlos syndrome (ORDO: Orphanet_287)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 55Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21459
Encyclopedic resources Wikidata; Q54851906
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11