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Cellosaurus (CVCL_1E00)

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Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 111(JaKir) (BSR111).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ile770fs (c.2308-117_2555+7420del7811) (Ex11-12fdel); Zygosity=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Arg899Ter (c.2695C>T); ClinVar=VCV000127491; Zygosity=Heterozygous (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Transformed cell line
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11