Description:
MUCOPOLYSACCHARIDOSIS TYPE VII
BETA-GLUCURONIDASE; GUSB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
9 |
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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 |
| |
| Gene |
GUSB |
| Chromosomal Location |
7q21.11 |
| Allelic Variant 1 |
W627C; MUCOPOLYSACCHARIDOSIS TYPE VII |
| Identified Mutation |
TRP627CYS |
| |
| Gene |
GUSB |
| Chromosomal Location |
7q21.11 |
| Allelic Variant 2 |
R356X; MUCOPOLYSACCHARIDOSIS TYPE VII |
| Identified Mutation |
ARG356TER |
| Remarks |
2% of normal B-glucuronidase, normal A-galactosidase, acid B-galactosidase, and A-mannosidase; 46,XY; donor subject is a compound heterozygote with two mutations in the GUSB gene; a G>T transversion [Trp627Cys (W627C)] in exon 12 and an Arg356Ter (R356X) mutation, a C>T transition that introduces a termination codon in exon 7 |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Sarrazin S, Wilson B, Sly WS, Tor Y, Esko JD, Guanidinylated neomycin mediates heparan sulfate-dependent transport of active enzymes to lysosomes Molecular therapy : the journal of the American Society of Gene Therapy18:1268-74 2010 |
| PubMed ID: 20442709 |
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| Yoshikawa H, Fujiyama A, Nakai K, Inazawa J, Matsubara K, Detection and isolation of a novel human gene located on Xp11.2-p11.4 that escapes X-inactivation using a two-dimensional DNA mapping method. Genomics49:237-46 1998 |
| PubMed ID: 9598311 |
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| Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS, Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet52:517-26 1993 |
| PubMed ID: 7680524 |
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| Wolfe JH, Schuchman EH, Stramm LE, Concaugh EA, Haskins ME, Aguirre GD, Patterson DF, Desnick RJ, Gilboa E, Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. Proc Natl Acad Sci U S A87:2877-81 1990 |
| PubMed ID: 2158095 |
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| Gallop PM, Paz MA, Henson E, Boradeption: a new procedure for transferring water-insoluble agents across cell membranes. Science217:166-9 1982 |
| PubMed ID: 6178158 |
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| Olsen I, Dean MF, Muir H, Harris G, Acquisition of beta-glucuronidase activity by deficient fibroblasts during direct contact with lymphoid cells. J Cell Sci55:211-31 1982 |
| PubMed ID: 7107725 |
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| Chern CJ, Tan P, Park H, Chromosomal mapping of human creatine kinase (brain type) using human- rodent somatic cell hybrids. Cytogenet Cell Genet27:232-7 1980 |
| PubMed ID: 6934066 |
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| Chern CJ, Detection of active heteropolymeric beta-glucuronidase in hybrids between mouse cells and human fibroblasts with beta-glucuronidase deficiency. Proc Natl Acad Sci U S A74:2948-52 1977 |
| PubMed ID: 268646 |
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| Sly WS, Greene AE, Coriell LL, Beta-glucuronidase deficiency mucopolysaccharidosis. Repository identification No. GM-121. Cytogenet Cell Genet15:410-2 1975 |
| PubMed ID: 817873 |
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| Sly WS, Quinton BA, McAlister WH, Rimoin DL, Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr82:249-57 1973 |
| PubMed ID: 4265197 |
| Passage Frozen |
9 |
| 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 |
| Supplement |
- |
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