Cellosaurus cell line HG2940 (CVCL

Cross-references
Cell line name	HG2940
Accession	CVCL_WY18
Resource Identification Initiative	To cite this cell line use: HG2940 (RRID:CVCL_WY18)
Comments	Population: Ecuadorian and El Salvadoran. Donor information: From Bloom Syndrome Registry patient 232 (BSR232). 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.Phe194Leufs*11 (c.582delT); ClinVar=VCV001878278; Zygosity=Homozygous (PubMed=17407155).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	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; Q94192752
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10