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Cellosaurus GM26642 (CVCL_A2WK)

[Text version]
Cell line name GM26642
Accession CVCL_A2WK
Resource Identification Initiative To cite this cell line use: GM26642 (RRID:CVCL_A2WK)
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.Thr1008Met (c.3023C>T); ClinVar=VCV000213047; Zygosity=Heterozygous (Coriell=GM26642).
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 Male
Age at sampling 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26642
Encyclopedic resources Wikidata; Q105507082
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6