| Name |
LMNA
|
| Type |
gene
|
| Species |
Homo sapiens
|
| Tissue |
hTERT immortalized HGPS skin fibroblasts (ATCC: AG0297-hTert) and hTERT immortalized CRL-1474 cells
|
| Experiment Method |
RNA-Seq analysis;Western blot;RT-PCR and sequencing;Immunofluorescence staining;High-throughput immunofluorescence microscopy and automated image analysis
|
| Up/Down |
NA
|
| Pro/Anti |
NA
|
| Funtion Description |
Mutations in LMNA cause multiple diseases known as laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS), a premature aging disorder caused by a point mutation that activates a cryptic 5' splice site in exon 11, resulting in a 150 bp deleti
|
| Regulation Gene |
NA
|
| Year |
2017
|
| Pubmed ID |
28857661
|
| Title |
Identification of novel RNA isoforms of LMNA.
|
| Drug |
NA
|
| Disease |
HGPS
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
Deletion mutation
|
| High-throughput |
NA
|