ID   GM14732
AC   CVCL_EJ64
DR   CLO; CLO_0031917
DR   Coriell; GM14732
DR   Wikidata; Q54847427
RX   PubMed=27896104;
CC   Sequence variation: Mutation; HGNC; HGNC:2600; CYP21A2; Unexplicit; Ex1-8del; Zygosity=Heterozygous (PubMed=27896104).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   31Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27896104; DOI=10.1016/j.ymgmr.2014.07.002; PMCID=PMC5121304;
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).
//