Journal
STEM CELL RESEARCH
Volume 62, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2022.102793
Keywords
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Funding
- Japan Agency for Medical Research and Development (AMED) [21bm0804027h0002]
- Acceleration Program for Intractable Diseases Research utilizing Disease-specific iPS cells
- Research Center Network for Realization of Regenerative Medicine
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A human induced pluripotent stem cell line derived from a patient with DCM carrying a LMNA mutation has been established, providing a valuable resource for studying disease mechanisms and developing treatments for LMNA-related DCM.
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.
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