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Cellosaurus GM13136 (CVCL_F126)

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Cell line name GM13136
Accession CVCL_F126
Resource Identification Initiative To cite this cell line use: GM13136 (RRID:CVCL_F126)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM13136).
Disease Fanconi anemia, complementation group C (NCIt: C125704)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F125 (GM00449)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Publications

PubMed=7994019; DOI=10.1182/blood.V84.12.3995.bloodjournal84123995
Johnson M. Liu, Manuel Buchwald, Christopher Edward Walsh, Neal Stuart Young;
Fanconi anemia and novel strategies for therapy.
Blood 84:3995-4007(1994)

Cross-references
Cell line collections (Providers) Coriell; GM13136
Cell line databases/resources CLO; CLO_0013654
Biological sample resources BioSample; SAMN00802139
Encyclopedic resources Wikidata; Q54846346
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number21