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Cellosaurus GM17494 (CVCL_GY29)

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Cell line name GM17494
Accession CVCL_GY29
Resource Identification Initiative To cite this cell line use: GM17494 (RRID:CVCL_GY29)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5320; HYAL1; Simple; p.Val251Phefs*20 (c.751_787delinsTTCCGTGTGGCCCG) (1361del37ins14); ClinVar=VCV000003531; Zygosity=Heterozygous (PubMed=10339581).
  • Mutation; HGNC; HGNC:5320; HYAL1; Simple; p.Glu268Lys (c.802G>A); ClinVar=VCV000003530; Zygosity=Heterozygous (PubMed=10339581).
Disease Mucopolysaccharidosis type IX (NCIt: C129073)
Hyaluronidase deficiency (ORDO: Orphanet_67041)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Finite cell line
Publications

PubMed=10339581; DOI=10.1073/pnas.96.11.6296; PMCID=PMC26875
Barbara Triggs-Raine, Timothy J. Salo, Hong Zhang, Brandy Alexandra Wicklow, Marvin R. Natowicz;
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
Proc. Natl. Acad. Sci. U.S.A. 96:6296-6300(1999)

Cross-references
Cell line collections (Providers) Coriell; GM17494
Cell line databases/resources CLO; CLO_0013010
Encyclopedic resources Wikidata; Q54848921
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11