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Cellosaurus HG1374 (CVCL_WX80)

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Cell line name HG1374
Accession CVCL_WX80
Resource Identification Initiative To cite this cell line use: HG1374 (RRID:CVCL_WX80)
Comments Donor information: From Bloom Syndrome Registry patient 128(YaWa) (BSR128).
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.Ser186_Lys187delinsTer (c.557_559delCAA) (S186*); ClinVar=VCV000005455; Zygosity=Homozygous (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

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
Encyclopedic resources Wikidata; Q94192503
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11