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Cellosaurus GM02241 (CVCL_GZ39)

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Cell line name GM02241
Synonyms GM-2241
Accession CVCL_GZ39
Resource Identification Initiative To cite this cell line use: GM02241 (RRID:CVCL_GZ39)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
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=GM02241).
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_GZ40 ! GM02242
Sex of cell Female
Age at sampling 1M
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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; GM02241
Cell line databases/resources CLO; CLO_0032240
Biological sample resources BioSample; SAMN00807622
Encyclopedic resources Wikidata; Q54837386
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13