ID   GM25222
AC   CVCL_D2YT
DR   Coriell; GM25222
DR   Wikidata; Q127380884
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7960; NR0B1; Simple; c.673-4161inv3488; Zygosity=Hemizygous (Coriell=GM25222).
CC   Sequence variation: Mutation; HGNC; HGNC:7960; NR0B1; Simple; c.4162_4164delCTT; Zygosity=Hemizygous (Coriell=GM25222).
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
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 4
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