Cellosaurus cell line HG1805 (CVCL

Cross-references
Cell line name	HG1805
Accession	CVCL_WX76
Resource Identification Initiative	To cite this cell line use: HG1805 (RRID:CVCL_WX76)
Comments	Population: Japanese. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (PubMed=17407155).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_L951 ! BS1KA CVCL_ZS84 ! EB-BS-NoKi-1 CVCL_ZS85 ! EB-BS-NoKi-2
Sex of cell	Female
Age at sampling	6Y
Category	Transformed cell line
Publications	PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x German J.L. 3rd, Bloom D., Passarge E. Bloom's syndrome. XI. Progress report for 1983. Clin. Genet. 25:166-174(1984) 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; Q94192579
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	9