GM16395
Fibroblast from Skin, Unspecified
Description:
GLUTARICACIDEMIA I
GLUTARYL-COA DEHYDROGENASE; GCDH
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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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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
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| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
R257W; GLUTARICACIDEMIA I |
| Identified Mutation |
ARG257TRP |
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| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
R294Q; GLUTARICACIDEMIA I |
| Identified Mutation |
ARG294GLN |
| Remarks |
Clinically affected; donor subject is a compound heterozygote: one allele carries a C-to-T transition (CGG>TGG) at nucleotide 805 (c.769) in exon 7 of the GCDH gene which results in a substitution of tryptophan for arginine at codon 257 [Arg257Trp (R257W)]; the second allele carries a G>A transition at nucleotide c.881 in exon 8 resulting in a substitution of glutamine for arginine at codon 294 [Arg294Gln (R294Q)] |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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