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Cellosaurus GM12217 (CVCL_GZ43)

[Text version]
Cell line name GM12217
Accession CVCL_GZ43
Resource Identification Initiative To cite this cell line use: GM12217 (RRID:CVCL_GZ43)
Comments 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; Simple; p.Ile173Asn (c.518T>A) (p.Ile172Asn, c.515T>A); ClinVar=VCV000012150; Zygosity=Homozygous (PubMed=27896104).
  • Mutation; HGNC; HGNC:2600; CYP21A2; Unexplicit; CH-3 30kb del (CH-3 type CYP21A1P/CYP21A2 chimer); Zygosity=Homozygous (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 3Y
Category Transformed cell line
Publications

PubMed=27896104; DOI=10.1016/j.ymgmr.2014.07.002; PMCID=PMC5121304
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller;
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) Coriell; GM12217
Cell line databases/resources CLO; CLO_0019181
Encyclopedic resources Wikidata; Q54845595
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11