GM25184
LCL from B-Lymphocyte
Description:
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Cell Type
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B-Lymphocyte
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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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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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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 LINE assay |
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| Gene |
ACADM |
| Chromosomal Location |
1p31 |
| Allelic Variant 1 |
; MCAD DEFICIENCY |
| Identified Mutation |
LYS329GLU (K329E) |
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| Gene |
ACADM |
| Chromosomal Location |
1p31 |
| Allelic Variant 2 |
; MCAD DEFICIENCY |
| Identified Mutation |
LYS329GLU (K329E) |
| Remarks |
Affected; subject is homozygous for a substitution of lysine for glutamic acid at codon 329 [Lys329Glu (K329E)] in ACADM gene; mother is heterozygous for same mutation (not in repository). |
| Gene Cards |
ACADM |
| Gene Ontology |
GO:0003995 acyl-CoA dehydrogenase activity |
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GO:0005759 mitochondrial matrix |
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GO:0006091 energy pathways |
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GO:0006118 electron transport |
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GO:0006631 fatty acid metabolism |
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GO:0006635 fatty acid beta-oxidation |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:34 |
| NCBI GTR |
201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD |
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607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
| OMIM |
201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD |
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607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
| Omim Description |
ACADM DEFICIENCY, INCLUDED |
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ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
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CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED |
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MCAD DEFICIENCY, INCLUDED |
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MCADH DEFICIENCY, INCLUDED |
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MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADHACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF, INCLUDED |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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