Cellosaurus logo
expasy logo

Cellosaurus GM24519 (CVCL_AZ34)

[Text version]
Cell line name GM24519
Accession CVCL_AZ34
Resource Identification Initiative To cite this cell line use: GM24519 (RRID:CVCL_AZ34)
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=GM24519).
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 17Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24519
Encyclopedic resources Wikidata; Q54853774
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12