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Cellosaurus GM21662 (CVCL_HL07)

[Text version]
Cell line name GM21662
Accession CVCL_HL07
Resource Identification Initiative To cite this cell line use: GM21662 (RRID:CVCL_HL07)
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.Gly540Arg (c.1618G>A); ClinVar=VCV000101297; Zygosity=Heterozygous (Coriell=GM21662).
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_HL08 ! GM21663
Sex of cell Female
Age at sampling 40Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21662
Encyclopedic resources Wikidata; Q54852064
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number10