Cellosaurus cell line WG0421 (CVCL

Cross-references
Cell line name	WG0421
Synonyms	WG 0421
Accession	CVCL_B3VM
Resource Identification Initiative	To cite this cell line use: WG0421 (RRID:CVCL_B3VM)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Miscellaneous: Cell line no longer available. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Tyr140Cys (c.419A>G); ClinVar=VCV000371634; Zygosity=Heterozygous (DOI=10.26502/acbr.50170022). Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Arg297Ter (c.889C>T); ClinVar=VCV000001562; Zygosity=Heterozygous (DOI=10.26502/acbr.50170022).
Disease	Mucopolysaccharidosis type IIIB (NCIt: C84898) Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	DOI=10.26502/acbr.50170022 Chloe L. Christensen, Rhea E. Ashmead, Francis Y.-M. Choy; Identification and characterization of NAGLU mutations in a Sanfilippo B syndrome patient with a novel genotype (p.Y140C/p.R297X). Arch. Clin. Biomed. Res. 1:200-208(2017)
Encyclopedic resources	Wikidata; Q110434003
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6