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Cellosaurus GM01530 (CVCL_V213)

[Text version]
Cell line name GM01530
Synonyms GM-1530
Accession CVCL_V213
Resource Identification Initiative To cite this cell line use: GM01530 (RRID:CVCL_V213)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Gly542Ter (c.1624G>T); ClinVar=VCV000007115; Zygosity=Heterozygous (Coriell=GM01530).
  • Mutation; HGNC; 1884; CFTR; Simple; p.His609Arg (c.1826A>G); ClinVar=VCV000053398; Zygosity=Heterozygous (Coriell=GM01530).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
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; GM01530
Cell line databases/resources CLO; CLO_0031471
Encyclopedic resources Wikidata; Q54836886
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number16