GM26194
Fibroblast from Skin, Skin
Description:
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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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, Skin
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Race
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Unknown
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Family History
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N
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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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| PDL at Freeze |
3.67 |
| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 1 |
; VLCAD DEFICIENCY |
| Identified Mutation |
1118T>C; I373T |
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| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 2 |
; VLCAD DEFICIENCY |
| Identified Mutation |
1358G>A; R453Q |
| Remarks |
Affected; diagnosed at newborn screening (NBS) by a geneticist; NBS was flagged as being abnormal and suggestive of VLCAD deficiency, all long chain acetyl-L-carnitine intermediates remained elevated in a diagnostic sample; C14:1 level was 4.04 nmol/mL (normal <0.16); fibroblast biopsy performed and acetyl-L carnitine profiling showed elevated C14 species diagnostic of VLCAD deficiency; DNA analysis revealed mutations in ACADVL: 1 copy of 1118T>C (I373T) and 1358G>A (R453Q); C16-CoA activity in cells was 0.66 nmoles ETF/min/ng (normal is 3.5-5). |
| Gene Cards |
ACADVL |
| Gene Ontology |
GO:0004466 long-chain-acyl-CoA dehydrogenase activity |
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GO:0005739 mitochondrion |
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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:0015980 energy derivation by oxidation of organic compounds |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:37 |
| NCBI GTR |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| OMIM |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| Omim Description |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
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VLCAD DEFICIENCYACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, INCLUDED; ACADVL, INCLUDED |
| Passage Frozen |
1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
| Supplement |
- |
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