Cellosaurus cell line HG2829 (CVCL

Cross-references
Cell line name	HG2829
Accession	CVCL_WY13
Resource Identification Initiative	To cite this cell line use: HG2829 (RRID:CVCL_WY13)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 98(RoMo) (BSR98). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Arg364Ter (c.1090A>T); ClinVar=VCV000632671; Zygosity=Homozygous (PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Trp567Ter (c.1701G>A); ClinVar=VCV000819865; Zygosity=Homozygous (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=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; Q94192726
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10