Cellosaurus cell line HG2193 (CVCL

Cross-references
Cell line name	HG2193
Accession	CVCL_WY03
Resource Identification Initiative	To cite this cell line use: HG2193 (RRID:CVCL_WY03)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 170 (BSR170). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln645Ter (c.1933C>T); ClinVar=VCV000454091; Zygosity=Heterozygous (PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Phe1087Leufs*11 (c.3261delT); ClinVar=VCV000454132; Zygosity=Heterozygous (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=17407155; DOI=10.1002/humu.20501 James Lafayette German 3rd, Maureen M. Sanz, Susan Ciocci, Tian-Zhang Ye, Nathan A. Ellis; Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum. Mutat. 28:743-753(2007)
Encyclopedic resources	Wikidata; Q94192641
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10