Cellosaurus cell line HG2508 (CVCL

Cross-references
Cell line name	HG2508
Accession	CVCL_WY07
Resource Identification Initiative	To cite this cell line use: HG2508 (RRID:CVCL_WY07)
Comments	Population: Caucasian. Donor information: From Bloom Syndrome Registry patient 105(ShWo) (BSR105). 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.Gln645Ter (c.1933C>T); ClinVar=VCV000454091; Zygosity=Heterozygous (PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln909Ter (c.2725C>T); ClinVar=VCV001454098; Zygosity=Heterozygous (PubMed=17407155).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Category	Finite cell line
Publications	PubMed=2647324; DOI=10.1111/j.1399-0004.1989.tb02905.x German J.L. 3rd, Passarge E. Bloom's syndrome. XII. Report from the Registry for 1987. Clin. Genet. 35:57-69(1989) 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; Q94192672
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	11