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Cellosaurus ID00063 (CVCL_2Z27)

[Text version]
Cell line name ID00063
Accession CVCL_2Z27
Resource Identification Initiative To cite this cell line use: ID00063 (RRID:CVCL_2Z27)
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; HGNC:11935; CD40LG; Simple; p.Ala187Leufs*4 (c.559delG) (580delG); ClinVar=VCV000521393; Zygosity=Hemizygous (Coriell=ID00063).
Disease Immunodeficiency with hyper-IgM (NCIt: C84783)
X-linked hyper-IgM syndrome (ORDO: Orphanet_101088)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ID00063
Encyclopedic resources Wikidata; Q54897283
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14