Description:
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I
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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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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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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| Passage Frozen |
7 |
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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 |
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| Remarks |
Infantile myoclonic encephalopathy; hypotonia; 46,XY |
| dbSNP |
dbSNP ID: 20878 |
| Gene Cards |
AMT |
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GLDC |
| Gene Ontology |
GO:0004047 aminomethyltransferase activity |
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GO:0004375 glycine dehydrogenase (decarboxylating) activity |
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GO:0005489 electron transporter activity |
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GO:0005739 mitochondrion |
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GO:0005960 glycine cleavage complex |
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GO:0005961 glycine dehydrogenase complex (decarboxylating) |
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GO:0006546 glycine catabolism |
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GO:0008483 transaminase activity |
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GO:0016491 oxidoreductase activity |
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GO:0016740 transferase activity |
| NCBI Gene |
Gene ID:2731 |
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Gene ID:275 |
| NCBI GTR |
238300 GLYCINE DECARBOXYLASE; GLDC |
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238310 AMINOMETHYLTRANSFERASE; AMT |
| OMIM |
238300 GLYCINE DECARBOXYLASE; GLDC |
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238310 AMINOMETHYLTRANSFERASE; AMT |
| Omim Description |
GLYCINE DECARBOXYLASE, INCLUDED; GLDC, INCLUDED |
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GLYCINE DEHYDROGENASE, INCLUDED |
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HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I |
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NKH1GLYCINE CLEAVAGE SYSTEM P PROTEIN, INCLUDED; GCSP, INCLUDED |
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AMINOMETHYLTRANSFERASE, INCLUDED; AMT, INCLUDED |
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HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II |
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NKH2GLYCINE CLEAVAGE SYSTEM T PROTEIN, INCLUDED; GCST, INCLUDED |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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