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Cellosaurus GM03403 (CVCL_J656)

[Text version]
Cell line name GM03403
Synonyms GM3403; GM03403B; GM3403B; GM03403C; GM3403C; GM03403E; GM03403F; GM 3403F; GM17361
Accession CVCL_J656
Resource Identification Initiative To cite this cell line use: GM03403 (RRID:CVCL_J656)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Jewish; Ashkenazi.
Doubling time: 48 hours (PubMed=1900268).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 9(EmSh) (BSR9).
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_J655 ! GM03402
Sex of cell Male
Age at sampling 33Y
Category Transformed cell line

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=2805228; DOI=10.1093/carcin/10.11.2067
Arita I., Tachibana A., Takebe H., Tatsumi K.
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

PubMed=1900268; DOI=10.1111/j.1349-7006.1991.tb01745.x
Kurihara T., Teraoka H., Inoue M., Takebe H., Tatsumi K.
Two types of DNA ligase I activity in lymphoblastoid cells from patients with Bloom's syndrome.
Jpn. J. Cancer Res. 82:51-57(1991)

Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

PubMed=22989712; DOI=10.1093/nar/gks862
Mendez-Bermudez A., Hidalgo-Bravo A., Cotton V.E., Gravani A., Jeyapalan J.N., Royle N.J.
The roles of WRN and BLM RecQ helicases in the alternative lengthening of telomeres.
Nucleic Acids Res. 40:10809-10820(2012)

Cell line collections Coriell; GM03403
Coriell; GM17361
Cell line databases/resources CLO; CLO_0013704
CLO; CLO_0016333
Biological sample resources BioSample; SAMN00808397
Encyclopedic resources Wikidata; Q54838056
Entry history
Entry creation11-Feb-2013
Last entry update21-Mar-2023
Version number24