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Cellosaurus HG2118 (CVCL_WY00)

[Text version]
Cell line name HG2118
Accession CVCL_WY00
Resource Identification Initiative To cite this cell line use: HG2118 (RRID:CVCL_WY00)
Comments Population: Caucasian; Dutch.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 65(AnPa) (BSR65).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Thr830Asnfs*5 (c.2488dupA); ClinVar=VCV000042178; Zygosity=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Lys1227Asnfs*52 (c.3681delA); Zygosity=Heterozygous (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Transformed 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
Encyclopedic resources Wikidata; Q94192618
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11