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Cellosaurus (CVCL_WK80)

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Comments Population: Jewish; Ashkenazi/Sephardic.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 107(MyAsa) (BSR107).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U708 ! GM16859
CVCL_WX72 ! HG2654
Sex of cell Female
Age at sampling >40Y
Category Transformed cell line
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9