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GM17494 Fibroblast from Skin, Unspecified

Description:

MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9
HYALURONOGLUCOSAMINIDASE 1; HYAL1

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; no serum hyaluronidase activity; periarticular subcutaneous nodules of fingers, knees, and ankles; submucosal cleft palate; increasing hip pain; short stature

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
hyalurononglucosaminidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.35; 0% activity.
 
Gene HYAL1
Chromosomal Location 3p21.31
Allelic Variant 1 607071.0001; MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9
Identified Mutation GLU268LYS
 
Gene HYAL1
Chromosomal Location 3p21.31
Allelic Variant 2 607071.0002; MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9
Identified Mutation 37-BP DEL/14-BP INS, NT1361

Phenotypic Data

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Remarks Clinically affected; no serum hyaluronidase activity; periarticular subcutaneous nodules of fingers, knees, and ankles; submucosal cleft palate; increasing hip pain; short stature

Publications

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Wisniewska K, Gaffke L, Zabinska M, Wegrzyn G, Pierzynowska K, Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases Current issues in molecular biology46:2678-2700 2024
PubMed ID: 38534785
 
Gaffke L, Pierzynowska K, Cyske Z, Podlacha M, Wegrzyn G, Contribution of vesicle trafficking dysregulation to the pathomechanism of mucopolysaccharidosis Biochemical and biophysical research communications665:107-117 2023
PubMed ID: 37149983
 
Zabinska M, Gaffke L, Bielanska P, Podlacha M, Rintz E, Cyske Z, Wegrzyn G, Pierzynowska K, Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach Pharmaceutics15:107-117 2023
PubMed ID: 36840025
 
Cyske Z, Gaffke L, Pierzynowska K, Wegrzyn G, Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes Genes13:107-117 2022
PubMed ID: 35456399
 
Gaffke L, Szczudlo Z, Podlacha M, Cyske Z, Rintz E, Mantej J, Krzelowska K, Wegrzyn G, Pierzynowska K, Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies Metabolic brain disease37:299-310 2022
PubMed ID: 34928474
 
Pierzynowska K, Zabinska M, Gaffke L, Cyske Z, Wegrzyn G, Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells European journal of cell biology101:151232 2022
PubMed ID: 35537249
 
Gaffke L, Pierzynowska K, Krzelowska K, Piotrowska E, Wegrzyn G, Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses Metabolic brain disease101:151232 2020
PubMed ID: 32886284
 
Gaffke L, Pierzynowska K, Rintz E, Cyske Z, Giecewicz I, Wegrzyn G, Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses International journal of molecular sciences22:151232 2020
PubMed ID: 33803318
 
Brokowska J, Pierzynowska K, Gaffke L, Rintz E, Wegrzyn G, Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses Cell biology international22:151232 2019
PubMed ID: 32125037
 
Gaffke L, Pierzynowska K, Podlacha M, Hoinkis D, Rintz E, Brokowska J, Cyske Z, Wegrzyn G, Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies International journal of molecular sciences21:151232 2019
PubMed ID: 32054071
 
Pierzynowska K, Gaffke L, Podlacha M, Wegrzyn G, Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies International journal of molecular sciences21:151232 2019
PubMed ID: 32050523
 
Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR, 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 A96(11):6296-300 1999
PubMed ID: 10339581
 
Natowicz MR, Short MP, Wang Y, Dickersin GR, Gebhardt MC, Rosenthal DI, Sims KB, Rosenberg AE, Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med335(14):1029-33 1996
PubMed ID: 8793927

External Links

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dbSNP dbSNP ID: 19401
Gene Cards HYAL1
Gene Ontology GO:0004415 hyalurononglucosaminidase activity
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
NCBI Gene Gene ID:3373
NCBI GTR 601492 MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9
607071 HYALURONOGLUCOSAMINIDASE 1; HYAL1
OMIM 601492 MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9
607071 HYALURONOGLUCOSAMINIDASE 1; HYAL1
Omim Description HYALURONIDASE DEFICIENCY
  MUCOPOLYSACCHARIDOSIS TYPE IX; MPS IXHYALURONOGLUCOSAMINIDASE 1, INCLUDED; HYAL1, INCLUDED

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 8%
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement Sodium Pyruvate 100mM
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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