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GM13203 Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE II
IDURONATE 2-SULFATASE; IDS

Affected:

Yes

Sex:

Male

Age:

3 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
Alternate IDs GM17358 [MUCOPOLYSACCHARIDOSIS TYPE II]
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity HAITIAN
Relation to Proband proband
Confirmation Biochemical characterization - other
Species Homo sapiens
Common Name Human
Remarks Haitian; coarse features; umbilical hernia; enlarged liver; flat acetabulum; developmental delay especially speech; deficient plasma iduronate sulfatase activity; donor subject is hemizygous for a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene (208insC) resulting in a frameshift and premature stop codon (H70PfsX29)

Characterizations

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PDL at Freeze 5.29
Passage Frozen 9
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
iduronate-2-sulfatase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.13
 
Gene IDS
Chromosomal Location Xq28
Allelic Variant 1 H70PfsX29; MUCOPOLYSACCHARIDOSIS TYPE II
Identified Mutation 208insC

Phenotypic Data

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Remarks Haitian; coarse features; umbilical hernia; enlarged liver; flat acetabulum; developmental delay especially speech; deficient plasma iduronate sulfatase activity; donor subject is hemizygous for a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene (208insC) resulting in a frameshift and premature stop codon (H70PfsX29)

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 2021
PubMed ID: 34928474
 
Hong J, Cheng YS, Yang S, Swaroop M, Xu M, Beers J, Zou J, Huang W, Marugan JJ, Cai X, Zheng W, iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II Experimental cell research412:113007 2021
PubMed ID: 34990619
 
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 2021
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
 
Kassam S, Understanding Experiences of Social Support as Coping Resources among Immigrant and Refugee Women with Postpartum Depression: An Integrative Literature Review Issues in mental health nursing21:1-13 2019
PubMed ID: 31070499
 
Pierzynowska K, Gaffke L, Podlacha M, Wegrzyn G, Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies International journal of molecular sciences21:1-13 2019
PubMed ID: 32050523
 
Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013
PubMed ID: 23983233

External Links

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dbSNP dbSNP ID: 11741
Gene Cards IDS
Gene Ontology GO:0004423 iduronate-2-sulfatase activity
GO:0005764 lysosome
GO:0008152 metabolism
GO:0008484 sulfuric ester hydrolase activity
GO:0016787 hydrolase activity
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:3423
NCBI GTR 300823 IDURONATE 2-SULFATASE; IDS
309900 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2
OMIM 300823 IDURONATE 2-SULFATASE; IDS
309900 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2
Omim Description HUNTER SYNDROME
  IDS DEFICIENCY
  IDURONATE 2-SULFATASE DEFICIENCY
  MPS II; MPS2
  MUCOPOLYSACCHARIDOSIS TYPE II
  SIDS DEFICIENCYIDURONATE 2-SULFATASE, INCLUDED; IDS, INCLUDED
  SULFO-IDURONATE SULFATASE DEFICIENCY

Culture Protocols

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Passage Frozen 9
Split Ratio 1:6
Temperature 37 C
Percent CO2 10%
Percent O2 AMBIENT
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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