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Cellosaurus GM23909 (CVCL_5T36)

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Cell line name GM23909
Accession CVCL_5T36
Resource Identification Initiative To cite this cell line use: GM23909 (RRID:CVCL_5T36)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7960; NR0B1; Simple; p.Val115Trpfs*149 (c.343delG); ClinVar=VCV001208006; Zygosity=Hemizygous (Coriell=GM23909).
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 11Y
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)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine Hellenga Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Fabrique Christman, Norman Phillip Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM23909
Encyclopedic resources Wikidata; Q54853435
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number14