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GM00156 Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE IIIB
N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU

Affected:

Yes

Sex:

Male

Age:

7 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
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks No detectable N-acetyl-alpha-D glucosaminidase activity; 46,XY; homozygous for a C>T transition at nucleotide 1876 (1876C>T) of the NAGLU gene resulting in a substitution of a termination codon at position 626 for Arg [Arg626ter (R626X)]

Characterizations

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PDL at Freeze 4.71
Passage Frozen 8
 
alpha-N-acetylglucosaminidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.50; 0% activity.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NAGLU
Chromosomal Location 17q21
Allelic Variant 1 609701.0002; MUCOPOLYSACCHARIDOSIS TYPE IIIB
Identified Mutation ARG626TER; In a cell line from a patient with Sanfilippo syndrome type B, GM00156, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] found homozygosity for an arg626-to-ter (R626X) premature termination mutation.

Phenotypic Data

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Remarks No detectable N-acetyl-alpha-D glucosaminidase activity; 46,XY; homozygous for a C>T transition at nucleotide 1876 (1876C>T) of the NAGLU gene resulting in a substitution of a termination codon at position 626 for Arg [Arg626ter (R626X)]

Publications

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Karolina Wiśniewska, Estera Rintz, Magdalena Żabińska, Lidia Gaffke, Magdalena Podlacha, Zuzanna Cyske, Grzegorz Węgrzyn, Karolina Pierzynowska, Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients Biochemical and Biophysical Research Communications733: 2024
PubMed ID: 39305572
 
Rodriguez-Lopez A, Huang X, Chen C, Zou J, Zheng W, Chen G, Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p R626X (c 1876C > T) mutation in the NAGLU gene Stem cell research81:103612 2024
PubMed ID: 39579553
 
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
 
Wisniewska K, Zabinska M, Gaffke L, Szulc A, Walter BM, Wegrzyn G, Pierzynowska K, Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels Frontiers in bioscience (Landmark edition)29:415 2024
PubMed ID: 39735993
 
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
 
Rintz E, Podlacha M, Cyske Z, Pierzynowska K, Wegrzyn G, Gaffke L, Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics13:107-117 2022
PubMed ID: 36344724
 
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
 
Huang W, Cheng YS, Yang S, Swaroop M, Xu M, Huang W, Zheng W, Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells Experimental cell research37:112785 2021
PubMed ID: 34411609
 
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
 
Wisniewska K, Gaffke L, Krzelowska K, Wegrzyn G, Pierzynowska K, Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes Gene812:146090 2021
PubMed ID: 34896230
 
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 disease812:146090 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 sciences22:146090 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 international22:146090 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 sciences21:146090 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 sciences21:146090 2019
PubMed ID: 32050523
 
Huusko P, Ponciano-Jackson D, Wolf M, Kiefer JA, Azorsa DO, Tuzmen S, Weaver D, Robbins C, Moses T, Allinen M, Hautaniemi S, Chen Y, Elkahloun A, Basik M, Bova GS, Bubendorf L, Lugli A, Sauter G, Schleutker J, Ozcelik H, Elowe S, Pawson T, Trent JM, Carpten JD, Kallioniemi OP, Mousses S, Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer. Nat Genet36(9):979-83 2004
PubMed ID: 15300251
 
Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF, The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A93:6101-5 1996
PubMed ID: 8650226

External Links

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dbSNP dbSNP ID: 22615
Gene Cards NAGLU
Gene Ontology GO:0004561 alpha-N-acetylglucosaminidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0007399 neurogenesis
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0030203 glycosaminoglycan metabolism
GEO GEO Accession No: GSM25782
GEO Accession No: GSM25783
GEO Accession No: GSM25824
GEO Accession No: GSM25855
GEO Accession No: GSM25856
GEO Accession No: GSM25857
NCBI Gene Gene ID:4669
NCBI GTR 252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
OMIM 252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Omim Description MPS IIIB
  MUCOPOLYSACCHARIDOSIS TYPE IIIB
  N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
  N-ACETYLGLUCOSAMINIDASE, ALPHA-, INCLUDED
  NAG POLYMORPHISM, INCLUDED
  NAGLU DEFICIENCYN-ACETYL-ALPHA-D-GLUCOSAMINIDASE POLYMORPHISM, INCLUDED
  NAGLU, INCLUDED
  SANFILIPPO SYNDROME B

Culture Protocols

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Passage Frozen 8
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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