ID   GM24519
AC   CVCL_AZ34
DR   Coriell; GM24519
DR   Wikidata; Q54853774
CC   Sequence variation: Mutation; HGNC; HGNC:7960; NR0B1; Simple; p.Arg425Gly (c.1273A>G); ClinVar=VCV002629746; Zygosity=Hemizygous (Coriell=GM24519).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35261; Congenital adrenal gland hypoplasia
DI   ORDO; Orphanet_95702; X-linked adrenal hypoplasia congenita
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//