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Cellosaurus GM02085 (CVCL_U703)

[Text version]
Cell line name GM02085
Synonyms GM-2085
Accession CVCL_U703
Resource Identification Initiative To cite this cell line use: GM02085 (RRID:CVCL_U703)
Comments Population: Jewish; Ashkenazi.
Omics: miRNA expression profiling.
Omics: Transcriptome analysis by microarray.
Donor information: From Bloom Syndrome Registry patient 53(StAs) (BSR53).
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 (Coriell=GM02085).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_JD73 ! GM01620
CVCL_WX73 ! HG1947
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Publications

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. 3rd, 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. 3rd, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

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)

Cross-references
Cell line collections (Providers) Coriell; GM02085
Cell line databases/resources CLO; CLO_0032511
Biological sample resources BioSample; SAMN00807472
Encyclopedic resources Wikidata; Q54837293
Gene expression databases GEO; GSM1316975
GEO; GSM1317012
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number19