ID   GM02552
AC   CVCL_0M04
SY   GM 02552
DR   CLO; CLO_0033449
DR   Coriell; GM02552
DR   Wikidata; Q54837544
RX   CelloPub=CLPUB00447;
RX   PubMed=8650226;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Arg297Ter (c.889C>T); ClinVar=VCV000001562; Zygosity=Heterozygous (Coriell=GM02552).
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Arg643His (c.1928G>A); ClinVar=VCV000001563; Zygosity=Heterozygous (Coriell=GM02552).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=8650226; DOI=10.1073/pnas.93.12.6101;
RA   Zhao H.G., Li H.-H., Bach G., Schmidtchen A., Neufeld E.F.;
RT   "The molecular basis of Sanfilippo syndrome type B.";
RL   Proc. Natl. Acad. Sci. U.S.A. 93:6101-6105(1996).
//