Cellosaurus logo
expasy logo

Cellosaurus DD1463 (CVCL_VC47)

[Text version]
Cell line name DD1463
Accession CVCL_VC47
Resource Identification Initiative To cite this cell line use: DD1463 (RRID:CVCL_VC47)
Comments Part of: ECACC chromosomal abnormality collection.
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; CH-1 30kb del (CH-1 type CYP21A1P/CYP21A2 chimer); Zygosity=Heterozygous (PubMed=27896104).
  • Mutation; HGNC; HGNC:2600; CYP21A2; Unexplicit; CH-7 30kb del (CH-7 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 2Y10M
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) ECACC; 93082605 - Discontinued
Encyclopedic resources Wikidata; Q54829785
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number9