Cellosaurus cell line HG1929 (CVCL

Cross-references
Cell line name	HG1929
Accession	CVCL_WX95
Resource Identification Initiative	To cite this cell line use: HG1929 (RRID:CVCL_WX95)
Comments	Population: Caucasian. Donor information: From Bloom Syndrome Registry patient 17(ChSm) (BSR17). 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.Lys657Glufs*5 (c.1968dupG); ClinVar=VCV000495425; 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=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x German J.L. 3rd, Bloom D., Passarge E. Bloom's syndrome. V. Surveillance for cancer in affected families. Clin. Genet. 12:162-168(1977) 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; Q94192589
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	11