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Cellosaurus GM02242 (CVCL_GZ40)

[Text version]
Cell line name GM02242
Synonyms GM-2242
Accession CVCL_GZ40
Resource Identification Initiative To cite this cell line use: GM02242 (RRID:CVCL_GZ40)
Comments Population: Caucasian.
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; c.293-13A/C>G (IVS2-13A/C>G); Zygosity=Unspecified; Note=Aberrant splice site activation (Coriell=GM02242).
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)
Originate from same individual CVCL_GZ39 ! GM02241
Sex of cell Female
Age at sampling 9M
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM02242
Cell line databases/resources CLO; CLO_0032239
Biological sample resources BioSample; SAMN00807624
Encyclopedic resources Wikidata; Q54837387
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13