ID   GM03251
AC   CVCL_9W94
DR   CLO; CLO_0016699
DR   BioSample; SAMN00808325
DR   Coriell; GM03251
DR   Wikidata; Q54837974
RX   CelloPub=CLPUB00447;
RX   PubMed=8910459;
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Trp273Leu (c.818G>T); ClinVar=VCV000000931; Zygosity=Heterozygous (Coriell=GM03251).
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Trp509Cys (c.1527G>T); ClinVar=VCV000000933; Zygosity=Heterozygous (Coriell=GM03251).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84902; Mucopolysaccharidosis type IVB
DI   ORDO; Orphanet_309310; Mucopolysaccharidosis type 4B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
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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=8910459; DOI=10.1074/jbc.271.45.28359;
RA   Pshezhetsky A.V., Potier M.;
RT   "Association of N-acetylgalactosamine-6-sulfate sulfatase with the
RT   multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and
RT   neuraminidase. Possible implication for intralysosomal catabolism of
RT   keratan sulfate.";
RL   J. Biol. Chem. 271:28359-28365(1996).
//