Cellosaurus cell line GM23960 (CVCL

Cross-references
Cell line name	GM23960
Accession	CVCL_EH23
Resource Identification Initiative	To cite this cell line use: GM23960 (RRID:CVCL_EH23)
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.Gly210Alafs*54 (c.629delG); Zygosity=Hemizygous (Coriell=GM23960).
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	Age unspecified
Category	Transformed cell line
Publications	PubMed=11748852; DOI=10.1002/humu.1236 Yao-Hua Zhang, Bing-Ling Huang, Kwame Anyane-Yeboa, Julienne A.R. Carvalho, Robert D. Clemons, Trevor Cole, Bonald C. De Figueiredo, Mark Lubinsky, Daniel Lee Metzger, Roberto Quadrelli, David R. Repaske ...Show all 18 authors... , Soraya Reyno, Laurie H. Seaver, Alicia Vaglio, Guy Van Vliet, Linda Lueckel McCabe, Edward R.B. McCabe, James K. Phelan; Show fewer authors Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Hum. Mutat. 18:547.1-547.5(2001)
Cell line collections (Providers)	Coriell; GM23960
Encyclopedic resources	Wikidata; Q54853461
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	12