ID   GM12217
AC   CVCL_GZ43
DR   CLO; CLO_0019181
DR   Coriell; GM12217
DR   Wikidata; Q54845595
RX   PubMed=27896104;
CC   Sequence variation: Mutation; HGNC; HGNC:2600; CYP21A2; Simple; p.Ile173Asn (c.518T>A) (p.Ile172Asn, c.515T>A); ClinVar=VCV000012150; Zygosity=Homozygous (PubMed=27896104).
CC   Sequence variation: Mutation; HGNC; HGNC:2600; CYP21A2; Unexplicit; CH-3 30kb del (CH-3 type CYP21A1P/CYP21A2 chimer); Zygosity=Homozygous (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   Male
AG   3Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
//
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).
//