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

PubMed=27896104; DOI=10.1016/j.ymgmr.2014.07.002
Greene C.N., Cordovado S.K., Turner D.P., Keong L.M., Shulman D., Mueller P.W.
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 update29-Jun-2023
Version number12