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Cellosaurus GM16375 (CVCL_7651)

[Text version]
Cell line name GM16375
Synonyms HG1525
Accession CVCL_7651
Resource Identification Initiative To cite this cell line use: GM16375 (RRID:CVCL_7651)
Comments Population: Caucasian; French Canadian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 81(MaGrou) (BSR81).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1058; BLM; Simple; p.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (PubMed=10521302; Coriell=GM16375).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U694 ! GM03509
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

PubMed=10521302; DOI=10.1086/302616; PMCID=PMC1288289
Ellis N.A., Proytcheva M., Sanz M.M., Ye T.-Z., German J.L. 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=11325959; DOI=10.1074/jbc.M009664200
Langland G.T., Kordich J., Creaney J., Goss K.H., Lillard-Wetherell K., Bebenek K., Kunkel T.A., Groden J.
The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair.
J. Biol. Chem. 276:30031-30035(2001)

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
Cell line collections (Providers) Coriell; GM16375
Cell line databases/resources CLO; CLO_0019421
Encyclopedic resources Wikidata; Q54848484
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number21