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Cellosaurus GM23896 (CVCL_GZ53)

[Text version]
Cell line name GM23896
Accession CVCL_GZ53
Resource Identification Initiative To cite this cell line use: GM23896 (RRID:CVCL_GZ53)
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.Ser153Glnfs*111 (c.457delT); Zygosity=Hemizygous (Coriell=GM23896).
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; GM23896
Encyclopedic resources Wikidata; Q54853427
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12