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Cellosaurus ID00078 (CVCL_2Z29)

[Text version]
Cell line name ID00078
Accession CVCL_2Z29
Resource Identification Initiative To cite this cell line use: ID00078 (RRID:CVCL_2Z29)
Comments Part of: US Immunodeficiency Network (USIDNET) cell repository.
Transformant: NCBI_TaxID; 10381; Saimiriine herpesvirus 2 (Herpesvirus saimiri).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9831; RAG1; Simple; p.Arg332Ter (c.994C>T); ClinVar=VCV000649706; Zygosity=Heterozygous (Coriell=ID00078).
  • Mutation; HGNC; 9831; RAG1; Simple; p.Arg561His (c.1682G>A); ClinVar=VCV000013143; Zygosity=Heterozygous (Coriell=ID00078).
Disease Omenn syndrome (NCIt: C61240)
Omenn syndrome (ORDO: Orphanet_39041)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ID00078
Encyclopedic resources Wikidata; Q54897285
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number13