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Cellosaurus GM24520 (CVCL_AZ35)

[Text version]
Cell line name GM24520
Accession CVCL_AZ35
Resource Identification Initiative To cite this cell line use: GM24520 (RRID:CVCL_AZ35)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7960; NR0B1; Simple; p.Arg425Gly (c.1273A>G); ClinVar=VCV002629746; Zygosity=Hemizygous (Coriell=GM24520).
Disease Congenital adrenal gland hypoplasia (NCIt: C35261)
X-linked adrenal hypoplasia congenita (ORDO: Orphanet_95702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24520
Encyclopedic resources Wikidata; Q54853775
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12