| Name |
LMNA
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
Fibroblasts from the patient with the p.L306R mutation and a healthy donor
|
| Experiment Method |
Immunoblotting;Immunofluorescence;Immunohistochemistry;
|
| Up/Down |
NA
|
| Pro/Anti |
Pro
|
| Funtion Description |
Sequencing of LMNA revealed a novel heterozygous de novo mutation p.L306R located in the a-helical rod domain of A-type lamins.Fibroblasts from the patient showed reduced proliferation and early premature replicative senescence, as characterized by progre
|
| Regulation Gene |
NA
|
| Year |
2015
|
| Pubmed ID |
25820511
|
| Title |
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.
|
| Drug |
NA
|
| Disease |
NA
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
NA
|
| High-throughput |
NA
|