Cellosaurus cell line HG149 (CVCL

Cross-references
Cell line name	HG149
Accession	CVCL_WX57
Resource Identification Initiative	To cite this cell line use: HG149 (RRID:CVCL_WX57)
Comments	Donor information: From Bloom Syndrome Registry patient 5(JaOa) (BSR5). 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.Gln700Ter (c.2098C>T); ClinVar=VCV000042067; 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
Age at sampling	20-32Y
Category	Finite cell line
Publications	PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x James Lafayette German 3rd, David Bloom, Eberhard Passarge; Bloom's syndrome. V. Surveillance for cancer in affected families. Clin. Genet. 12:162-168(1977) 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; Q94192513
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10