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GM04374 Fibroblast

Description:

TYROSINE TRANSAMINASE DEFICIENCY

Affected:

Yes

Sex:

Female

Age:

5 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 Amino Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race American Indian/Alaska Native
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Seizures; mental retardation; normal fibroblast p-hydroxyphenylpyruvic hydroxylase activity; deficient cytosolic tyrosine aminotransferase activity

Characterizations

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Passage Frozen 12
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
tyrosine transaminase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.6.1.5
 

Phenotypic Data

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Remarks Seizures; mental retardation; normal fibroblast p-hydroxyphenylpyruvic hydroxylase activity; deficient cytosolic tyrosine aminotransferase activity

Publications

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deGroot GW, Dakshinamurti K, Allan L, Haworth JC, Defect in soluble tyrosine aminotransferase in skin fibroblasts of a patient with tyrosinemia. Pediatr Res14:896-8 1980
PubMed ID: 6106182

External Links

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dbSNP dbSNP ID: 22465
Gene Ontology GO:0004838 tyrosine transaminase activity
GO:0006519 amino acid and derivative metabolism
GO:0006559 L-phenylalanine catabolism
GO:0006572 tyrosine catabolism
GO:0008372 cellular_component unknown
GO:0009058 biosynthesis
GO:0009072 aromatic amino acid family metabolism
GO:0016740 transferase activity
GO:0016847 1-aminocyclopropane-1-carboxylate synthase activity
NCBI Gene Gene ID:6898
NCBI GTR 276600 TYROSINEMIA, TYPE II; TYRSN2
OMIM 276600 TYROSINEMIA, TYPE II; TYRSN2
Omim Description KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY
  OREGON TYPE TYROSINEMIA
  RICHNER-HANHART SYNDROME
  TAT DEFICIENCY
  TAT, SOLUBLE, INCLUDED
  TYROSINE AMINOTRANSFERASE DEFICIENCY
  TYROSINE TRANSAMINASE DEFICIENCY
  TYROSINEMIA, TYPE II
  TYROSINOSIS, OCULOCUTANEOUS TYPETYROSINE AMINOTRANSFERASE, INCLUDED; TAT, INCLUDED

Culture Protocols

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Passage Frozen 12
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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