NA13203
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE II
IDURONATE 2-SULFATASE; IDS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17358 [MUCOPOLYSACCHARIDOSIS TYPE II] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
HAITIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| 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) |
| 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 |
|
|