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GM03722 Fibroblast from Skin, Arm

Description:

MUCOPOLYSACCHARIDOSIS TYPE VI

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • 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 Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; bilateral corneal clouding; 3cm liver; prominent eyes, forehead, and tongue; widely-spaced peg-like teeth; flat nasal bridge; joint contractures (knees-20 degrees, elbows-10 degrees); lumbar lordosis; externally rotated femurs; slightly stiff and swollen fingers; 5% of normal arylsulfatase B activity, consistent with homozygosity; family history reveals that parents are related through their grandfather; unaffected mother (GM03720-fibro, GM03721-lymph); unaffected father (GM03724-fibro, GM03725-lymph); unaffected sister (GM03726-fibro) and unaffected half-siblings (not in repository); see GM03723 lymphoid (same donor).

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
N-acetylgalactosamine-4-sulfatase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12; 5% activity.
 

Phenotypic Data

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Remarks Clinically affected; bilateral corneal clouding; 3cm liver; prominent eyes, forehead, and tongue; widely-spaced peg-like teeth; flat nasal bridge; joint contractures (knees-20 degrees, elbows-10 degrees); lumbar lordosis; externally rotated femurs; slightly stiff and swollen fingers; 5% of normal arylsulfatase B activity, consistent with homozygosity; family history reveals that parents are related through their grandfather; unaffected mother (GM03720-fibro, GM03721-lymph); unaffected father (GM03724-fibro, GM03725-lymph); unaffected sister (GM03726-fibro) and unaffected half-siblings (not in repository); see GM03723 lymphoid (same donor).

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
 
Tuyaa-Boustugue P, Jantzen I, Zhang H, Young SP, Broqua P, Tallandier M, Entchev E, Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models Molecular genetics and metabolism reports37:101011 2023
PubMed ID: 38053941
 
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 Pharmaceutics15:101011 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 Genes13:101011 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
 
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
 
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

External Links

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dbSNP dbSNP ID: 19940
Gene Ontology GO:0003943 N-acetylgalactosamine-4-sulfatase activity
GO:0004065 arylsulfatase activity
GO:0005509 calcium ion binding
GO:0005764 lysosome
GO:0007041 lysosomal transport
GO:0008152 metabolism
GO:0016787 hydrolase activity
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:411
NCBI GTR 253200 MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
OMIM 253200 MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
Omim Description ARSB DEFICIENCY
  ARYLSULFATASE B DEFICIENCY
  MAROTEAUX-LAMY SYNDROME
  MPS VI; MPS6
  MUCOPOLYSACCHARIDOSIS TYPE VI
  N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCYARYLSULFATASE B, INCLUDED; ARSB, INCLUDED

Images

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View pedigree 

Culture Protocols

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Passage Frozen 3
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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