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Cellosaurus ID00017 (CVCL_6G82)

[Text version]
Cell line name ID00017
Accession CVCL_6G82
Resource Identification Initiative To cite this cell line use: ID00017 (RRID:CVCL_6G82)
Comments Part of: US Immunodeficiency Network (USIDNET) cell repository.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 186; ADA; Simple; p.Arg156His (c.467G>A); ClinVar=VCV000001984; Zygosity=Heterozygous (Coriell=ID00017).
  • Mutation; HGNC; 186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (Coriell=ID00017).
Disease Adenosine deaminase deficiency (NCIt: C3962)
Severe combined immunodeficiency due to adenosine deaminase deficiency (ORDO: Orphanet_277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ID00017
Cell line databases/resources CLO; CLO_0029232
Encyclopedic resources Wikidata; Q54897250
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number14