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Cellosaurus GM02932 (CVCL_U705)

[Text version]
Cell line name GM02932
Synonyms GM2932; GM 2932; HG46
Accession CVCL_U705
Resource Identification Initiative To cite this cell line use: GM02932 (RRID:CVCL_U705)
Comments Population: Jewish; Ashkenazi.
Omics: miRNA expression profiling.
Omics: Transcriptome analysis by microarray.
Donor information: From Bloom Syndrome Registry patient 3(HoCo) (BSR3).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (PubMed=17407155; Coriell=GM02932).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U702 ! GM00811
Sex of cell Male
Age at sampling 28Y
Category Finite 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=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. III, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

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)

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=17407155; DOI=10.1002/humu.20501
German J.L. III, 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=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)

Cell line collections (Providers) Coriell; GM02932
Cell line databases/resources CLO; CLO_0012829
Biological sample resources BioSample; SAMN00808173
Encyclopedic resources Wikidata; Q54837755
Gene expression databases GEO; GSM476013
GEO; GSM1316979
GEO; GSM1317017
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number19