Cellosaurus cell line HG1321 (CVCL

Cross-references
Cell line name	HG1321
Accession	CVCL_WX85
Resource Identification Initiative	To cite this cell line use: HG1321 (RRID:CVCL_WX85)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: From Bloom Syndrome Registry patient 59(FrFi) (BSR59). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln700Ter (c.2098C>T); ClinVar=VCV000042067; Zygosity=Heterozygous (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_U713 ! GM16886
Sex of cell	Male
Age at sampling	7Y
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; Q94192500
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10