Cellosaurus cell line (CVCL

Entry history
Comments	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.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
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	12