ID   GM23909
AC   CVCL_5T36
DR   Coriell; GM23909
DR   Wikidata; Q54853435
RX   PubMed=11748852;
RX   PubMed=23665875;
CC   Sequence variation: Mutation; HGNC; HGNC:7960; NR0B1; Simple; p.Val115Trpfs*149 (c.343delG); ClinVar=VCV001208006; Zygosity=Hemizygous (Coriell=GM23909).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Variations; CNV analysis.
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   11Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 14
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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).
//
RX   PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//