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Cellosaurus GM16883 (CVCL_U712)

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Cell line name GM16883
Synonyms HG1348
Accession CVCL_U712
Resource Identification Initiative To cite this cell line use: GM16883 (RRID:CVCL_U712)
Comments Population: Caucasian; Belgian.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; miRNA profiling; Microarray.
Donor information: From Bloom Syndrome Registry patient 31(CaDe) (BSR31).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ala363fs (c.1088-2A>G) (IVS5-2A>G); Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=17407155; Coriell=GM16883).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln672Arg (c.2015A>G) (2089A>G); ClinVar=VCV000188963; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM16883).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Finite cell line
Publications

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

PubMed=17407155; DOI=10.1002/humu.20501
James Lafayette German 3rd, Maureen M. Sanz, Susan Ciocci, Tian-Zhang Ye, Nathan A. Ellis;
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)

Cross-references
Cell line collections (Providers) Coriell; GM16883
Cell line databases/resources CLO; CLO_0018136
Encyclopedic resources Wikidata; Q54848800
Gene expression databases GEO; GSM1316991
GEO; GSM1317029
Entry history
Entry creation16-Apr-2014
Last entry update10-Apr-2025
Version number20