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Cellosaurus GM23960 (CVCL_EH23)

[Text version]
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
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)

Cross-references
Cell line collections (Providers) Coriell; GM23960
Encyclopedic resources Wikidata; Q54853461
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12