Cellosaurus cell line HG2231 (CVCL

Cross-references
Cell line name	HG2231
Accession	CVCL_WY05
Resource Identification Initiative	To cite this cell line use: HG2231 (RRID:CVCL_WY05)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 139(ViKre) (BSR139). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln672Arg (c.2015A>G) (2089A>G); ClinVar=VCV000188963; Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Arg (c.3163T>C); ClinVar=VCV000549904; Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Transformed cell line
Publications	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; Q94192649
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10