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GM03725 LCL from B-Lymphocyte

Description:

MUCOPOLYSACCHARIDOSIS TYPE VI

Affected:

No

Sex:

Male

Age:

41 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
Alternate IDs GM17103 [MUCOPOLYSACCHARIDOSIS TYPE VI]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Black/African American
Ethnicity AFRICAN-AMERICAN
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected father of affected child (GM03722-fibro, GM03723-lymph); family history reveals subject is related to spouse through their grandfather; unaffected daughter (sister of affected child: GM03726-fibro); unaffected spouse (GM03720-fibro, GM03721-lymph);See GM03724 Fibroblast (same donor).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Clinically unaffected father of affected child (GM03722-fibro, GM03723-lymph); family history reveals subject is related to spouse through their grandfather; unaffected daughter (sister of affected child: GM03726-fibro); unaffected spouse (GM03720-fibro, GM03721-lymph);See GM03724 Fibroblast (same donor).

Publications

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Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005
PubMed ID: 16421712

External Links

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dbSNP dbSNP ID: 10691
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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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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