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Cellosaurus ID00085 (CVCL_2Z35)

[Text version]
Cell line name ID00085
Accession CVCL_2Z35
Resource Identification Initiative To cite this cell line use: ID00085 (RRID:CVCL_2Z35)
Comments Part of: US Immunodeficiency Network (USIDNET) cell repository.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6010; IL2RG; Simple; p.Val187Gly (c.574T>G); Zygosity=Hemizygous (Coriell=ID00085).
Disease X-linked severe combined immunodeficiency (NCIt: C4682)
T-B+ severe combined immunodeficiency due to gamma chain deficiency (ORDO: Orphanet_276)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ID00085
Encyclopedic resources Wikidata; Q54897291
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number11