Cellosaurus cell line (CVCL

Entry history
Comments	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.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
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	11