GM11471

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

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

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

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

Remarks

Publications

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