GM01562
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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Race
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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
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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 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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