Description:
GLUTARICACIDEMIA 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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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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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 |
| |
| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
M191T; GLUTARICACIDEMIA I |
| Identified Mutation |
MET191THR |
| |
| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
; GLUTARICACIDEMIA I |
| Identified Mutation |
IVS2+48T>C |
| Remarks |
Expired at age 12; infantile onset of progressive neuromyopathy with progressive myotonia, athetosis, dystonic posturing, and inability to speak; liver shows absence of glutaryl-CoA dehydrogenase activity; 2 similarly affected sibs; P2 at CCR; donor subject is is a compound heterozygote: the paternal allele has 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)]; the maternal allele has a mutation in intron 2 (c.127+48T>C) which may or may not be pathogenic |
| 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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