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Cellosaurus GM09960 (CVCL_U706)

[Text version]
Cell line name GM09960
Accession CVCL_U706
Resource Identification Initiative To cite this cell line use: GM09960 (RRID:CVCL_U706)
Comments Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 27(LySe) (BSR27).
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 (Coriell=GM09960).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U707 ! GM16377
Sex of cell Female
Age at sampling 22Y
Category Transformed cell line
Publications

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

Cross-references
Cell line collections (Providers) Coriell; GM09960
Cell line databases/resources CLO; CLO_0029737
Encyclopedic resources Wikidata; Q54844135
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17