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Cellosaurus GM03251 (CVCL_9W94)

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Cell line name GM03251
Accession CVCL_9W94
Resource Identification Initiative To cite this cell line use: GM03251 (RRID:CVCL_9W94)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp273Leu (c.818G>T); ClinVar=VCV000000931; Zygosity=Heterozygous (Coriell=GM03251).
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp509Cys (c.1527G>T); ClinVar=VCV000000933; Zygosity=Heterozygous (Coriell=GM03251).
Disease Mucopolysaccharidosis type IVB (NCIt: C84902)
Mucopolysaccharidosis type 4B (ORDO: Orphanet_309310)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8910459; DOI=10.1074/jbc.271.45.28359
Alexey V. Pshezhetsky, Michel Potier;
Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate.
J. Biol. Chem. 271:28359-28365(1996)

Cross-references
Cell line collections (Providers) Coriell; GM03251
Cell line databases/resources CLO; CLO_0016699
Biological sample resources BioSample; SAMN00808325
Encyclopedic resources Wikidata; Q54837974
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15