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Cellosaurus GM03402 (CVCL_J655)

[Text version]
Cell line name GM03402
Synonyms GM 3402; GM3402; GM03402A
Accession CVCL_J655
Resource Identification Initiative To cite this cell line use: GM03402 (RRID:CVCL_J655)
Comments Population: Jewish; Ashkenazi.
Omics: miRNA expression profiling.
Omics: Transcriptome analysis by microarray.
Donor information: From Bloom Syndrome Registry patient 9(EmSh) (BSR9).
Derived from sampling site: Skin. Cell type=Fibroblast.
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_J656 ! GM03403
Sex of cell Male
Age at sampling 30Y
Category Finite 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)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=3180052
Lehmann A.R., Willis A.E., Broughton B.C., James M.R., Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988)

CLPUB00447
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=19966276; DOI=10.1093/nar/gkp1103
Johnson J.E., Cao K., Ryvkin P., Wang L.-S., Johnson F.B.
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential.
Nucleic Acids Res. 38:1114-1122(2010)

Cross-references
Cell line collections Coriell; GM03402
Cell line databases/resources CLO; CLO_0016334
Biological sample resources BioSample; SAMN00808396
Encyclopedic resources Wikidata; Q54838053
Gene expression databases GEO; GSM476014
GEO; GSM1316981
GEO; GSM1317019
Entry history
Entry creation11-Feb-2013
Last entry update21-Mar-2023
Version number19