Cellosaurus cell line HG1987 (CVCL

Cellosaurus HG1987 (CVCL_WX98)

Cross-references
Cell line name	HG1987
Accession	CVCL_WX98
Resource Identification Initiative	To cite this cell line use: HG1987 (RRID:CVCL_WX98)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 30(MaKa) (BSR30). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Arg899Ter (c.2695C>T); ClinVar=VCV000127491; Zygosity=Heterozygous (PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asp1010Metfs*24 (c.3028delG); ClinVar=VCV000189048; 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=7585968; DOI=10.1016/0092-8674(95)90105-1 Ellis N.A., Groden J., Ye T.-Z., Straughen J.E., Lennon D.J., Ciocci S., Proytcheva M., German J.L. 3rd The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-666(1995) 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)
Encyclopedic resources	Wikidata; Q94192610
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10