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Cellosaurus HG2727 (CVCL_WX74)

[Text version]
Cell line name HG2727
Accession CVCL_WX74
Resource Identification Initiative To cite this cell line use: HG2727 (RRID:CVCL_WX74)
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 (from autologous cell line HG2703).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WX52 ! HG2703
Category Transformed cell line
Publications

PubMed=7585968; DOI=10.1016/0092-8674(95)90105-1
Ellis N.A., Groden J., Ye T.-Z., Straughen J.E., Lennon D.J., Ciocci S., Proytcheva M., German J.L. 3rd
The Bloom's syndrome gene product is homologous to RecQ helicases.
Cell 83:655-666(1995)

Cross-references
Encyclopedic resources Wikidata; Q94192715
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9