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Cellosaurus GM16859 (CVCL_U708)

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Cell line name GM16859
Accession CVCL_U708
Resource Identification Initiative To cite this cell line use: GM16859 (RRID:CVCL_U708)
Comments Population: Jewish; Ashkenazi/Sephardic.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; miRNA profiling; Microarray.
Donor information: From Bloom Syndrome Registry patient 107(MyAsa) (BSR107).
Derived from site: In situ; Uterus, cervix; UBERON=UBERON_0000002.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM16859).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WX89 ! HG1742
CVCL_WX72 ! HG2654
Sex of cell Female
Age at sampling 43Y
Category Finite cell line
Publications

PubMed=2647324; DOI=10.1111/j.1399-0004.1989.tb02905.x
James Lafayette German 3rd, Eberhard Passarge;
Bloom's syndrome. XII. Report from the Registry for 1987.
Clin. Genet. 35:57-69(1989)

Cross-references
Cell line collections (Providers) Coriell; GM16859
Cell line databases/resources CLO; CLO_0018418
Encyclopedic resources Wikidata; Q54848787
Gene expression databases GEO; GSM1316988
GEO; GSM1317026
Entry history
Entry creation16-Apr-2014
Last entry update10-Apr-2025
Version number18