Description:
CYSTATHIONINURIA
CYSTATHIONINE GAMMA-LYASE; CTH
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Repository
|
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
|
White
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Relation to Proband
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parent
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Confirmation
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Clinical summary/Case history
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|
ISCN
|
46,XY
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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 Chromosome Analysis |
| |
| Gene |
CTH |
| Chromosomal Location |
1p31.1 |
| Allelic Variant 1 |
607657.0003; CYSTATHIONINURIA |
| Identified Mutation |
THR67ILE |
| Remarks |
HLA type A3,A10,B13,B18; proband not in Repository; 46,XY; 22% of cells show random chromosome loss; clinically unaffected |
| Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn T, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV, Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency Molecular genetics and metabolism: 2019 |
| PubMed ID: 32165008 |
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