4.2 Article

Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation

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STEM CELL RESEARCH
卷 62, 期 -, 页码 -

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ELSEVIER
DOI: 10.1016/j.scr.2022.102793

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资金

  1. Japan Agency for Medical Research and Development (AMED) [21bm0804027h0002]
  2. Acceleration Program for Intractable Diseases Research utilizing Disease-specific iPS cells
  3. 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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