Description:
GLUTARICACIDEMIA I
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Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
6
|
|
Relation to Proband
|
father
|
|
Confirmation
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Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
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|
Remarks
|
|
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
M191T; GLUTARICACIDEMIA I |
| Identified Mutation |
MET191THR |
| Remarks |
Clinically unaffected; 3 affected children; donor subject is heterozygous for a T>C transition at nucleotide 572 in exon 6 of the GCDH gene (c.572T>C) resulting in a substitution of threonine for methionine at codon 191 [Met191Thr (M191T)] |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| 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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