Description:
METHYLMALONICACIDURIA DUE TO METHYLMALONIC COA MUTASE DEFICIENCY
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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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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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| PDL at Freeze |
4.67 |
| Passage Frozen |
15 |
| |
| Remarks |
Unresponsive to B12; ATCC CCL 124; defective methylmalonyl CoA mutase apoenzyme; G6PD type B |
| Erlich-Hadad T, Hadad R, Feldman A, Greif H, Lictenstein M, Lorberboum-Galski H, TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells Journal of cellular and molecular medicine: 2017 |
| PubMed ID: 29265583 |
| |
| Ledley FD, Crane AM, Lumetta M, Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Am J Hum Genet46:539-47 1990 |
| PubMed ID: 1968706 |
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| Morrow G 3d, Mellman WJ, Barness LA, Dimitrov NV, Propionate metabolism in cells cultured from a patient with methylmalonic acidemia. Pediatr Res3:217-9 1969 |
| PubMed ID: 5788784 |
| Passage Frozen |
15 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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