Cellosaurus cell line HG2252 (CVCL

Cross-references
Cell line name	HG2252
Accession	CVCL_WY06
Resource Identification Initiative	To cite this cell line use: HG2252 (RRID:CVCL_WY06)
Comments	Population: Caucasian; Italian. Donor information: From Bloom Syndrome Registry patient 80(ErPal) (BSR80). 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.Ser104Ter (c.311C>A); ClinVar=VCV001683330; Zygosity=Heterozygous (PubMed=17407155). Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Ser (c.3164G>C); ClinVar=VCV000042078; 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	Male
Category	Finite cell line
Publications	PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x James Lafayette German 3rd, David Bloom, Eberhard Passarge; Bloom's syndrome. VII. Progress report for 1978. Clin. Genet. 15:361-367(1979) 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; Q94192653
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	12