Cellosaurus cell line HG1783 (CVCL

Cross-references
Cell line name	HG1783
Accession	CVCL_WX92
Resource Identification Initiative	To cite this cell line use: HG1783 (RRID:CVCL_WX92)
Comments	Donor information: From Bloom Syndrome Registry patient 129(MaWat) (BSR129). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
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)
Sex of cell	Male
Category	Finite cell line
Publications	PubMed=2647324; DOI=10.1111/j.1399-0004.1989.tb02905.x James Lafayette German 3rd, Eberhard Passarge; Bloom's syndrome. XII. Report from the Registry for 1987. Clin. Genet. 35:57-69(1989) 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; Q94192570
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	9