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Cellosaurus HG1052 (CVCL_WX83)

[Text version]
Cell line name HG1052
Accession CVCL_WX83
Resource Identification Initiative To cite this cell line use: HG1052 (RRID:CVCL_WX83)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 50(JeBl) (BSR50).
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=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; HGNC:1058; BLM; Unexplicit; Ex22-22Fdel; 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 Female
Category Transformed cell line
Publications

PubMed=17407155; DOI=10.1002/humu.20501
German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)

Cross-references
Encyclopedic resources Wikidata; Q94192496
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10