Cellosaurus logo
expasy logo

Cellosaurus HG1947 (CVCL_WX73)

[Text version]
Cell line name HG1947
Accession CVCL_WX73
Resource Identification Initiative To cite this cell line use: HG1947 (RRID:CVCL_WX73)
Comments Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 53(StAs) (BSR53).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; 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_JD73 ! GM01620
CVCL_U703 ! GM02085
Sex of cell Female
Category Transformed cell line
Publications

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. III, Bloom D., Passarge E.
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

PubMed=17407155; DOI=10.1002/humu.20501
German J.L. III, 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; Q94192598
Entry history
Entry creation06-Sep-2019
Last entry update29-Jun-2023
Version number8