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Cellosaurus HG2820 (CVCL_WY12)

[Text version]
Cell line name HG2820
Accession CVCL_WY12
Resource Identification Initiative To cite this cell line use: HG2820 (RRID:CVCL_WY12)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 142(MaMatu) (BSR142).
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)
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)

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; Q94192721
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9