Description:
CYSTATHIONINURIA
CYSTATHIONINE GAMMA-LYASE; CTH
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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 |
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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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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Clinical summary/Case history
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ISCN
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46,XX
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Gene |
CTH |
| Chromosomal Location |
1p31.1 |
| Allelic Variant 1 |
607657.0003; CYSTATHIONINURIA |
| Identified Mutation |
THR67ILE |
| |
| Gene |
CTH |
| Chromosomal Location |
1p31.1 |
| Allelic Variant 2 |
607657.0004; CYSTATHIONINURIA |
| Identified Mutation |
GLN240GLU |
| Remarks |
B6 responsive; 46,XX; 4% of cells show random chromosome loss; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 [Thr67Ile (T67I)]; and the second allele has a C>G transversion at nucleotide 874 in exon 7 (874C>G) resulting in the substitution of glutamic acid for glutamine at codon 240 [Gln240Glu (Q240E)] |
| Wang J, Hegele RA, Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). Hum Genet112(4):404-8 2003 |
| PubMed ID: 12574942 |
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