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Cellosaurus HG2703 (CVCL_WX52)

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Cell line name HG2703
Accession CVCL_WX52
Resource Identification Initiative To cite this cell line use: HG2703 (RRID:CVCL_WX52)
Comments Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 171 (BSR171) (Nr2(CrSPe)).
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=10521302; 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_WX74 ! HG2727
Category Transformed cell line
Publications

PubMed=7585968; DOI=10.1016/0092-8674(95)90105-1
Nathan A. Ellis, Joanna Groden, Tian-Zhang Ye, Joel E. Straughen, David J. Lennon, Susan Ciocci, Maria Proytcheva, James Lafayette German 3rd;
The Bloom's syndrome gene product is homologous to RecQ helicases.
Cell 83:655-666(1995)

PubMed=10521302; DOI=10.1086/302616; PMCID=PMC1288289
Nathan A. Ellis, Maria Proytcheva, Maureen M. Sanz, Tian-Zhang Ye, James Lafayette German 3rd;
Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.
Am. J. Hum. Genet. 65:1368-1374(1999)

PubMed=17407155; DOI=10.1002/humu.20501
James Lafayette German 3rd, Maureen M. Sanz, Susan Ciocci, Tian-Zhang Ye, Nathan A. Ellis;
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; Q94192696
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9