Description:
PROPIONIC ACIDEMIA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.31 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| propionyl-CoA carboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.4.1.3 |
| |
| Remarks |
Deficient Propionyl CoA carboxylase activity |
| Thomas SP, Denu JM, Short-chain fatty acids activate acetyltransferase p300 eLife10: 2021 |
| PubMed ID: 34677127 |
| |
| Jiang L, Park JS, Yin L, Laureano R, Jacquinet E, Yang J, Liang S, Frassetto A, Zhuo J, Yan X, Zhu X, Fortucci S, Hoar K, Mihai C, Tunkey C, Presnyak V, Benenato KE, Lukacs CM, Martini PGV, Guey LT, Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia Nature communications11:5339 2019 |
| PubMed ID: 33087718 |
| Split Ratio |
1:4 |
| 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 |
- |
|
|