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Cellosaurus GM11781 (CVCL_GZ42)

[Text version]
Cell line name GM11781
Accession CVCL_GZ42
Resource Identification Initiative To cite this cell line use: GM11781 (RRID:CVCL_GZ42)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2600; CYP21A2; Simple; c.293-13A/C>G (IVS2-13A/C>G); Zygosity=Homozygous; Note=Aberrant splice site activation (PubMed=27896104).
Disease Adrenal gland hyperplasia III (NCIt: C129302)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (ORDO: Orphanet_90794)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=27896104; DOI=10.1016/j.ymgmr.2014.07.002; PMCID=PMC5121304
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller;
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.
Mol. Genet. Metab. Rep. 1:312-323(2014)

Cross-references
Cell line collections (Providers) Coriell; GM11781
Cell line databases/resources CLO; CLO_0021420
Encyclopedic resources Wikidata; Q54845257
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13