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GM10402 LCL from B-Lymphocyte

Description:

GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

No Data

Sex:

Male

Age:

45 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
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 Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Two children with classic galactosemia; despite well documented adequate dietary management since birth, both children were ment retarded & both had tremor & prom cerebellar signs; parent has carrier level of transferase activ; GALT gene mutation: 1025C>T [Arg333Trp (R333W)]

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
 
MUTATION VERIFICATION Reichardt et al (Am J Hum Genet 49:860-867 1991) reported that DNA isolated from this parent heterozygous for galactosemia had a missence mutation in one of his GALT alleles. The mutation is a transition of C to T at nucleotide 1025 that leads to the replacement of arginine 333 by tryptophan (R333W).
 
Gene GALT
Chromosomal Location 9p13
Allelic Variant 1 606999.0002; GALACTOSEMIA
Identified Mutation ARG333TRP; In a classic galactosemic patient, Reichardt and Woo [Am J Hum Genet 47: A164 (1990); Proc Natl Acad Sci U S A 88: 2633 (1991)] found a methionine-to-lysine change at a position that is conserved in all eukaryotes sequenced to date but in none of the prokaryotes. The mutation reduced the specific activity of the mutated protein to about 4% of normal.

Phenotypic Data

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Remarks Two children with classic galactosemia; despite well documented adequate dietary management since birth, both children were ment retarded & both had tremor & prom cerebellar signs; parent has carrier level of transferase activ; GALT gene mutation: 1025C>T [Arg333Trp (R333W)]

Publications

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Reichardt JK, Packman S, Woo SL, Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet49:860-7 1991
PubMed ID: 1897530
 
Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G, Curious neurologic sequelae in galactosemia. Pediatrics73:309-12 1984
PubMed ID: 6701054

External Links

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dbSNP dbSNP ID: 11374
Gene Cards GALT
Gene Ontology GO:0003982 UTP-hexose-1-phosphate uridylyltransferase activity
GO:0006012 galactose metabolism
GO:0008108 UDP-glucose-hexose-1-phosphate uridylyltransferase activity
GO:0016740 transferase activity
NCBI Gene Gene ID:2592
NCBI GTR 230400 GALACTOSEMIA I; GALAC1
606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
OMIM 230400 GALACTOSEMIA I; GALAC1
606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Omim Description GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY
  GALACTOSEMIA
  GALT DEFICIENCYGALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE; GALT, INCLUDED

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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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