ID   GM11781
AC   CVCL_GZ42
DR   CLO; CLO_0021420
DR   Coriell; GM11781
DR   Wikidata; Q54845257
RX   CelloPub=CLPUB00447;
RX   PubMed=27896104;
CC   Sequence variation: Mutation; HGNC; 2600; CYP21A2; Simple; c.293-13A/C>G (IVS2-13A/C>G); Zygosity=Homozygous; Note=Aberrant splice site activation (PubMed=27896104).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   Female
AG   11Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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).
//