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Cellosaurus ID00079 (CVCL_2Z30)

[Text version]
Cell line name ID00079
Accession CVCL_2Z30
Resource Identification Initiative To cite this cell line use: ID00079 (RRID:CVCL_2Z30)
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; HGNC:10031; RMRP; Simple; n.71A>G (70A>G); ClinVar=VCV000014208; Zygosity=Homozygous (Coriell=ID00079).
Disease Cartilage hair hypoplasia (NCIt: C61245)
Cartilage-hair hypoplasia (ORDO: Orphanet_175)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ID00079
Encyclopedic resources Wikidata; Q54897286
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13