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GM00286 Fibroblast

Description:

TYROSINEMIA, TYPE I
FUMARYLACETOACETATE HYDROLASE; FAH

Affected:

Yes

Sex:

Male

Age:

2 MO (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
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Formerly GM00058; clinically affected; one allele carries a missense mutation in codon 166 of fumarylacetoacetate hydrolase (FAH) gene: T>G in base 553 (553T>G) causes a GTC(val) to GGC(gly) substitution [Val166Gly (V166G)]; the other allele is unknown

Characterizations

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PDL at Freeze 6.47
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
FUMARYLACETOACETATE HYDROLASE Grompe & Al-Dhalimy (Hum Mutat 2:85-93,1993) reported that DNA from this patient with tyrosinemia type 1 had a missence mutation, V166G, in codon 166 of the fumarylacetoacetate hydrolase gene. The mutation, a T to G at base 553, causes a substitution of glycine (GGC) for valine (GTC). No genomic analysis was carried out to determine whether the patient is homozygous for this change or whether the patient bears a second mutant allele which was not present in the patient's mRNA in significant quantities.
 
Gene FAH
Chromosomal Location 15q23-q25
Allelic Variant 1 V166G; TYROSINEMIA, TYPE I
Identified Mutation VAL166GLY

Phenotypic Data

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Remarks Formerly GM00058; clinically affected; one allele carries a missense mutation in codon 166 of fumarylacetoacetate hydrolase (FAH) gene: T>G in base 553 (553T>G) causes a GTC(val) to GGC(gly) substitution [Val166Gly (V166G)]; the other allele is unknown

Publications

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Grompe M, al-Dhalimy M, Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Hum Mutat2:85-93 1993
PubMed ID: 8318997

External Links

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dbSNP dbSNP ID: 19175
Gene Ontology GO:0004334 fumarylacetoacetase activity
GO:0006559 L-phenylalanine catabolism
GO:0006572 tyrosine catabolism
GO:0008152 metabolism
GO:0009072 aromatic amino acid family metabolism
GO:0016787 hydrolase activity
NCBI Gene Gene ID:2184
NCBI GTR 276700 TYROSINEMIA, TYPE I; TYRSN1
OMIM 276700 TYROSINEMIA, TYPE I; TYRSN1
Omim Description FAH DEFICIENCYFUMARYLACETOACETASE, INCLUDED; FAH, INCLUDED
  FUMARYLACETOACETASE DEFICIENCY
  HEPATORENAL TYROSINEMIA
  TYROSINEMIA, TYPE I

Culture Protocols

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Passage Frozen 10
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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