| RRC ID |
70507
|
| Author |
Shimoda Y, Murakoshi N, Mori H, Xu D, Tajiri K, Hemmi Y, Sato I, Noguchi M, Nakamura Y, Hayashi Y, Ieda M.
|
| Title |
Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation.
|
| Journal |
Stem Cell Res
|
| Abstract |
Dilated cardiomyopathy (DCM) is a refractory heart disease characterized by dilation of the left ventricle and systolic dysfunction. LMNA, the gene encoding lamin A/C (a nuclear envelope protein), is the second leading causative gene associated with familial DCM. LMNA-related DCM is likely to develop severe heart failure, various types of arrhythmias, and poor prognosis. We established a human induced pluripotent stem cell line, derived from a patient with DCM carrying a nonsense mutation in LMNA. This line should be a useful resource for elucidating disease mechanisms and developing fundamental treatments for LMNA-related DCM.
|
| Volume |
62
|
| Pages |
102793
|
| Published |
2022-7-1
|
| DOI |
10.1016/j.scr.2022.102793
|
| PII |
S1873-5061(22)00142-8
|
| PMID |
35500377
|
| MeSH |
Arrhythmias, Cardiac
Cardiomyopathy, Dilated* / genetics
Codon, Nonsense
Heart
Humans
Induced Pluripotent Stem Cells* / metabolism
Lamin Type A / genetics
Mutation
|
| IF |
4.495
|
| Resource |
| Human and Animal Cells |
HPS3386 |
