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Cellosaurus GM14734 (CVCL_GZ50)

[Text version]
Cell line name GM14734
Accession CVCL_GZ50
Resource Identification Initiative To cite this cell line use: GM14734 (RRID:CVCL_GZ50)
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; Unexplicit; Ex1-8del; Zygosity=Heterozygous (PubMed=27896104).
  • Mutation; HGNC; HGNC:2600; CYP21A2; Unexplicit; CH-5 30kb del (CH-5 type CYP21A1P/CYP21A2 chimer); Zygosity=Heterozygous (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 Male
Age at sampling 3Y
Category Transformed cell line
Publications

PubMed=27896104; DOI=10.1016/j.ymgmr.2014.07.002; PMCID=PMC5121304
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; GM14734
Cell line databases/resources CLO; CLO_0031915
Encyclopedic resources Wikidata; Q54847430
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11