ID   GM17494
AC   CVCL_GY29
DR   CLO; CLO_0013010
DR   Coriell; GM17494
DR   Wikidata; Q54848921
RX   PubMed=10339581;
CC   Sequence variation: Mutation; HGNC; HGNC:5320; HYAL1; Simple; p.Val251Phefs*20 (c.751_787delinsTTCCGTGTGGCCCG) (1361del37ins14); ClinVar=VCV000003531; Zygosity=Heterozygous (PubMed=10339581).
CC   Sequence variation: Mutation; HGNC; HGNC:5320; HYAL1; Simple; p.Glu268Lys (c.802G>A); ClinVar=VCV000003530; Zygosity=Heterozygous (PubMed=10339581).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129073; Mucopolysaccharidosis type IX
DI   ORDO; Orphanet_67041; Hyaluronidase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=10339581; DOI=10.1073/pnas.96.11.6296; PMCID=PMC26875;
RA   Triggs-Raine B., Salo T.J., Zhang H., Wicklow B.A., Natowicz M.R.;
RT   "Mutations in HYAL1, a member of a tandemly distributed multigene
RT   family encoding disparate hyaluronidase activities, cause a newly
RT   described lysosomal disorder, mucopolysaccharidosis IX.";
RL   Proc. Natl. Acad. Sci. U.S.A. 96:6296-6300(1999).
//