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Cellosaurus GM02531 (CVCL_F080)

[Text version]
Cell line name GM02531
Synonyms AT20IJE-F; GM2531; GM02531A
Accession CVCL_F080
Resource Identification Initiative To cite this cell line use: GM02531 (RRID:CVCL_F080)
Comments Population: Iranian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; c.2251del19; Zygosity=Heterozygous (Coriell=GM02531).
  • Mutation; HGNC; 795; ATM; Simple; c.5675del88; Zygosity=Heterozygous (Coriell=GM02531).
  • Mutation; HGNC; 795; ATM; Simple; c.6573del81; Zygosity=Heterozygous (Coriell=GM02531).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F079 ! GM02782
Sex of cell Male
Age at sampling 5Y
Category Finite cell line
Publications

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

Cross-references
Cell line collections (Providers) Coriell; GM02531
Cell line databases/resources CLO; CLO_0033410
Encyclopedic resources Wikidata; Q54837536
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number19