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Cellosaurus GM16881 (CVCL_U710)

[Text version]
Cell line name GM16881
Synonyms HG1179
Accession CVCL_U710
Resource Identification Initiative To cite this cell line use: GM16881 (RRID:CVCL_U710)
Comments Population: Caucasian.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; miRNA profiling; Microarray.
Donor information: From Bloom Syndrome Registry patient 6(DeSou) (BSR6).
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.Gln975Lysfs*24 (c.2923delC); ClinVar=VCV000042076; Zygosity=Homozygous (PubMed=17407155; Coriell=GM16881).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
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=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)

Cross-references
Cell line collections (Providers) Coriell; GM16881
Cell line databases/resources CLO; CLO_0018134
Encyclopedic resources Wikidata; Q54848798
Gene expression databases GEO; GSM1316989
GEO; GSM1317027
Entry history
Entry creation16-Apr-2014
Last entry update10-Apr-2025
Version number17