ID   GM23910
AC   CVCL_EH22
DR   Coriell; GM23910
DR   Wikidata; Q54853436
RX   PubMed=11748852;
CC   Sequence variation: Mutation; HGNC; HGNC:7960; NR0B1; Simple; p.Leu295Pro (c.884T>C); Zygosity=Hemizygous (Coriell=GM23910).
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   Age unspecified
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=11748852; DOI=10.1002/humu.1236;
RA   Zhang Y.-H., Huang B.-L., Anyane-Yeboa K., Carvalho J.A.R.,
RA   Clemons R.D., Cole T., De Figueiredo B.C., Lubinsky M., Metzger D.L.,
RA   Quadrelli R., Repaske D.R., Reyno S., Seaver L.H., Vaglio A.,
RA   Van Vliet G., McCabe L.L., McCabe E.R.B., Phelan J.K.;
RT   "Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia
RT   congenita.";
RL   Hum. Mutat. 18:547.1-547.5(2001).
//