ID   DD1463
AC   CVCL_VC47
DR   ECACC; 93082605
DR   Wikidata; Q54829785
RX   PubMed=27896104;
CC   Part of: ECACC chromosomal abnormality collection.
CC   Sequence variation: Mutation; HGNC; 2600; CYP21A2; Unexplicit; CH-1 30kb del (CH-1 type CYP21A1P/CYP21A2 chimer); Zygosity=Heterozygous (PubMed=27896104).
CC   Sequence variation: Mutation; HGNC; 2600; CYP21A2; Unexplicit; CH-7 30kb del (CH-7 type CYP21A1P/CYP21A2 chimer); Zygosity=Heterozygous (PubMed=27896104).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: ECACC; 93082605; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129302; Adrenal gland hyperplasia III
DI   ORDO; Orphanet_90794; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y10M
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=27896104; DOI=10.1016/j.ymgmr.2014.07.002;
RA   Greene C.N., Cordovado S.K., Turner D.P., Keong L.M., Shulman D.,
RA   Mueller P.W.;
RT   "Novel method to characterize CYP21A2 in Florida patients with
RT   congenital adrenal hyperplasia and commercially available cell lines.";
RL   Mol. Genet. Metab. Rep. 1:312-323(2014).
//