Description:
PHENYLKETONURIA
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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 |
| Alternate IDs |
GM17073 [PHENYLKETONURIA] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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PUERTO RICAN
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
PAH |
| Chromosomal Location |
12q24.1 |
| Allelic Variant 1 |
R176X; PHENYLKETONURIA |
| Identified Mutation |
ARG176TER |
| |
| Gene |
PAH |
| Chromosomal Location |
12q24.1 |
| Allelic Variant 2 |
R176X; PHENYLKETONURIA |
| Identified Mutation |
ARG176TER |
| Remarks |
Puerto Rican; clinically affected; profound mental retardation; spastic quadriparesis; donor subject is homozygous for a C>T transition at nucleotide 526 in exon 6 of the PAH gene [526C>T] resulting in a substitution of a termination signal for arginine at codon 176 [Arg176Ter (R176X)]. |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
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