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Cellosaurus GM04408 (CVCL_7408)

[Text version]
Cell line name GM04408
Synonyms GM4408; GM-4408; GM 4408; GM04408A; HG1440
Accession CVCL_7408
Resource Identification Initiative To cite this cell line use: GM04408 (RRID:CVCL_7408)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian; English and Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 87(AlFra) (BSR87).
Caution: Coriell has p.Cys1055fs*23 (c.3159delT) (3233delT) as the second mutation for this cell line.
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=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; 1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (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_F114 ! GM03498
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=6667451
Taylor M.W., Kothari R.M., Holland G.D., Martinez-Valdez H., Zeige G.
A comparison of purine and pyrimidine pools in Bloom's syndrome and normal cells.
Cancer Biochem. Biophys. 7:19-25(1983)

PubMed=6330733; DOI=10.1073/pnas.81.13.4033; PMCID=PMC345362
Taylor M.W., Long T., Martinez-Valdez H., Downing J., Zeige G.
Induction of gamma-interferon activity by elevated temperatures in human B-lymphoblastoid cell lines.
Proc. Natl. Acad. Sci. U.S.A. 81:4033-4036(1984)

PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. XI. Progress report for 1983.
Clin. Genet. 25:166-174(1984)

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)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
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)

Cross-references
Cell line collections (Providers) Coriell; GM04408
Cell line databases/resources CLO; CLO_0019706
Anatomy/cell type resources BTO; BTO:0005028
Encyclopedic resources Wikidata; Q54838515
Entry history
Entry creation04-Apr-2012
Last entry update10-Sep-2024
Version number23