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Cellosaurus ID00050 (CVCL_2Z24)

[Text version]
Cell line name ID00050
Accession CVCL_2Z24
Resource Identification Initiative To cite this cell line use: ID00050 (RRID:CVCL_2Z24)
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; 10820; SH2D1A; Simple; p.Arg55Ter (c.163C>T); ClinVar=VCV000010898; Zygosity=Hemizygous (Coriell=ID00050).
Disease X-linked lymphoproliferative syndrome 1 (NCIt: C170434)
X-linked lymphoproliferative disease due to SH2D1A deficiency (ORDO: Orphanet_538931)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ID00050
Cell line databases/resources CLO; CLO_0029182
Encyclopedic resources Wikidata; Q54897273
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number13