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Cellosaurus GM23909 (CVCL_5T36)

[Text version]
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: 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
Zhang Y.-H., Huang B.-L., Anyane-Yeboa K., Carvalho J.A.R., Clemons R.D., Cole T., De Figueiredo B.C., Lubinsky M., Metzger D.L., Quadrelli R., Repaske D.R., Reyno S., Seaver L.H., Vaglio A., Van Vliet G., McCabe L.L., McCabe E.R.B., Phelan J.K.
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
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
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 update19-Dec-2024
Version number13