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Cellosaurus AV036 (CVCL_UI92)

[Text version]
Cell line name AV036
Accession CVCL_UI92
Resource Identification Initiative To cite this cell line use: AV036 (RRID:CVCL_UI92)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Sequence variations
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; c.631+2T>G (IVS7+2T>G); ClinVar=VCV000009349; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=15645491).
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Cys1200Terfs (c.3599_3600delGT) (3827delGT); Zygosity=Heterozygous (PubMed=15645491).
Disease Fanconi anemia, complementation group D1 (NCIt: C125705)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UI93 ! SB1685CB
CVCL_UI94 ! SB1690CB
Sex of cell Male
Age at sampling 1Y2M
Category Transformed cell line
Publications

PubMed=15645491; DOI=10.1002/gcc.20153
Meyer S., Fergusson W.D., Oostra A.B., Medhurst A.L., Waisfisz Q., de Winter J.P., Chen F., Carr T.F., Clayton-Smith J., Clancy T., Green M., Barber L., Eden O.B., Will A.M., Joenje H., Taylor G.M.
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.
Genes Chromosomes Cancer 42:404-415(2005)

Cross-references
Encyclopedic resources Wikidata; Q93327475
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number9