DNTP001252
dTTP
| dNTP Pool | |
|---|---|
| Pool identifier | POOL000311 |
| Members of this Pool |
|
| Members of control pools |
|---|
| POOL000310 |
|
Last modified: 10/Sep/2021
| Results | |
|---|---|
| Publication |
Franzolin E, Coletta S, Ferraro P, Pontarin G, D'Aronco G, Stevanoni M, Palumbo E, Cagnin S, Bertoldi L, Feltrin E, Valle G, Russo A, Bianchi V, Rampazzo C: SAMHD1-deficient fibroblasts from Aicardi-Goutières Syndrome patients can escape senescence and accumulate mutations.,
FASEB J, 2020
PubMed |
| Value | 18.6 | Dimension | pmol/106 cell |
| Error (standard error) | 5 |
| Data presentation in publication | diagram |
| Source | |
|---|---|
| Source organism |
human
(Homo sapiens)
Taxonomy 9606 |
| Sample source | cell line |
| Tissue type | skin |
| Cell line/type as in publication | skin fibroblasts derived cells; Patient 1 |
| Compartment | whole cell |
| Experiment Details | |
|---|---|
| Measurement type | dNTP incorporation assay |
| Extraction method | methanol |
| Growth conditions | DMEM with 4.5 g/L glucose, 10% (v/v) fetal calf serum (FCS), non-essential amino acids, and antibiotics; dNTP pool sizes were measured in quiescent cultures maintained for 10 days in 0.1% FCS serum |
| Treatment | |
|---|---|
| Treatment details/effects | Patient 1 (heterozygote carrying SAMHD1 mutations R145X and R164X) |
| Genes and Proteins | |
|---|---|
| Gene name | SAMHD1 |
| Gene identifier | 25939 |
| Protein name | Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 |
| Protein identifier | Q9Y3Z3 |
| Genetic manipulation/variation | genetic variation |
| Mutation in protein | R145X, R164X |