Cellosaurus cell line HG2510 (CVCL

Cellosaurus HG2510 (CVCL_WY08)

Cross-references
Cell line name	HG2510
Accession	CVCL_WY08
Resource Identification Initiative	To cite this cell line use: HG2510 (RRID:CVCL_WY08)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 112(NaSch) (BSR112). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Lys272Ter (c.814A>T) (888A>T); Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ala363fs (c.1220+3A>G); ClinVar=VCV000949363; 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)
Sex of cell	Male
Category	Transformed cell line
Publications	PubMed=2647324; DOI=10.1111/j.1399-0004.1989.tb02905.x German J.L. 3rd, Passarge E. Bloom's syndrome. XII. Report from the Registry for 1987. Clin. Genet. 35:57-69(1989) 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; Q94192677
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	12