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NA03719 DNA from Fibroblast

Description:

GLYCOGEN STORAGE DISEASE IB

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Other
Ethnicity PANAMA INDIAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Type Ib; Panamanian Ind; severe hypoglycemia, lactic acidosis, and neutropenia; liver biopsy shows G6P transport defect

Characterizations

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Passage Frozen 9
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 

Phenotypic Data

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Remarks Type Ib; Panamanian Ind; severe hypoglycemia, lactic acidosis, and neutropenia; liver biopsy shows G6P transport defect

Publications

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Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY, Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest95:234-40 1995
PubMed ID: 7814621
 
Beaudet AL, Anderson DC, Michels VV, Arion WJ, Lange AJ, Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. J Pediatr97:906-10 1980
PubMed ID: 6255119
 
Lange AJ, Arion WJ, Beaudet AL, Type Ib glycogen storage disease is caused by a defect in the glucose-6- phosphate translocase of the microsomal glucose-6-phosphatase system. J Biol Chem255:8381-4 1980
PubMed ID: 6251055

External Links

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dbSNP dbSNP ID: 10688
Gene Cards G6PT1
NCBI GTR 232220 GLYCOGEN STORAGE DISEASE Ib; GSD1B
OMIM 232220 GLYCOGEN STORAGE DISEASE Ib; GSD1B
Omim Description GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT
  GLYCOGEN STORAGE DISEASE Ib
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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