NA00286
DNA from Fibroblast
Description:
TYROSINEMIA, TYPE I
FUMARYLACETOACETATE HYDROLASE; FAH
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.47 |
| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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. |
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| Gene |
FAH |
| Chromosomal Location |
15q23-q25 |
| Allelic Variant 1 |
V166G; TYROSINEMIA, TYPE I |
| Identified Mutation |
VAL166GLY |
| 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 |
| 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 |
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