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GM11471 LCL from B-Lymphocyte

Description:

GLYCOGEN STORAGE DISEASE I
GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC

Affected:

No Data

Sex:

Male

Age:

30 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
GeT-RM Samples
Class Disorders of Carbohydrate Metabolism
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 3
Relation to Proband father
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; daughter has absent liver glucose-6-phosphatase activity; donor subject is heterozygous for a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene [1118C>T] resulting in a substitution of a termination signal for glutamine at codon 347 [Gln347Ter (Q347X)].

Characterizations

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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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 3 laboratories.
 
glucose-6-phosphatase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.9; 0% activity.
 
Gene G6PC
Chromosomal Location 17q21
Allelic Variant 1 613742.0004; GLYCOGEN STORAGE DISEASE Ia
Identified Mutation GLN347TER; A truncation mutation in exon 5 resulting from a C->T transition and the generation of a stop codon instead of glutamine at codon 347. The predicted Q347X mutant G6Pase is a truncated protein of 346 amino acids, 11 amino acids shorter than the wildtype G6Pase. Site-directed mutagenesis and transient expression assays demonstrated that the mutant protein is devoid of G6Pase activity.

Phenotypic Data

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Remarks Clinically unaffected; daughter has absent liver glucose-6-phosphatase activity; donor subject is heterozygous for a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene [1118C>T] resulting in a substitution of a termination signal for glutamine at codon 347 [Gln347Ter (Q347X)].

Publications

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Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY, Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J Clin Invest93:1994-9 1994
PubMed ID: 8182131

External Links

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dbSNP dbSNP ID: 11589
Gene Cards G6PC
Gene Ontology GO:0004346 glucose-6-phosphatase activity
GO:0005215 transporter activity
GO:0005351 sugar porter activity
GO:0005783 endoplasmic reticulum
GO:0005792 microsome
GO:0005977 glycogen metabolism
GO:0005978 glycogen biosynthesis
GO:0006006 glucose metabolism
GO:0006810 transport
GO:0016021 integral to membrane
GO:0016787 hydrolase activity
NCBI Gene Gene ID:2538
NCBI GTR 232200 GLYCOGEN STORAGE DISEASE Ia; GSD1A
613742 GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
OMIM 232200 GLYCOGEN STORAGE DISEASE Ia; GSD1A
613742 GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
Omim Description G6PT, FORMERLY, INCLUDED
  GLUCOSE-6-PHOSPHATASE DEFICIENCY
  GLYCOGEN STORAGE DISEASE I
  GLYCOGEN STORAGE DISEASE IaGLUCOSE-6-PHOSPHATASE, CATALYTIC, INCLUDED; G6PC, INCLUDED
  HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE
  HEPATORENAL GLYCOGENOSIS
  VON GIERKE DISEASE

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% 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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