ID   WG0421
AC   CVCL_B3VM
SY   WG 0421
DR   Wikidata; Q110434003
RX   DOI=10.26502/acbr.50170022;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Tyr140Cys (c.419A>G); ClinVar=VCV000371634; Zygosity=Heterozygous (DOI=10.26502/acbr.50170022).
CC   Sequence variation: Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Arg297Ter (c.889C>T); ClinVar=VCV000001562; Zygosity=Heterozygous (DOI=10.26502/acbr.50170022).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
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RX   DOI=10.26502/acbr.50170022;
RA   Christensen C.L., Ashmead R.E., Choy F.Y.-M.;
RT   "Identification and characterization of NAGLU mutations in a
RT   Sanfilippo B syndrome patient with a novel genotype
RT   (p.Y140C/p.R297X).";
RL   Arch. Clin. Biomed. Res. 1:200-208(2017).
//