Key result
Reprogramming PBMCs from a patient with LMNA-variant DCM successfully generates a novel iPSC line.
Why the study?
Cardiac laminopathy caused by LMNA mutations is common, highly penetrant, and associated with poor prognosis, necessitating relevant in vitro models.
The establishment of the YCMi003-A iPSC line provides a useful in vitro model for studying cardiac laminopathy associated with the LMNA p.Asp364His mutation.
May support preclinical modeling of LMNA cardiomyopathy; leaves open clinical translation pending validation.
Cardiac laminopathy caused by mutations in the LMNA gene are common and highly penetrant with a poor prognosis. We have generated a novel human induced pluripotent stem cell(iPSC) lines YCMi003-A from a patient with dilated cardiomyopathy associated with genetic variant LMNA c.1090G > C; p.Asp364His. We reprogrammed patient-specific peripheral blood mononuclear cells using five episomal vectors Oct4, Sox2, Lin28, L-Myc, and Klf4. The reported iPSC line would be a useful model for in vitro modeling of cardiac laminopathy.
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Oh et al. (2021) studied Dilated cardiomyopathy associated with genetic variant LMNA c.1090G > C; p.Asp364His (n=1). Reprogramming using five episomal vectors Oct4, Sox2, Lin28, L-Myc, and Klf4 was evaluated on Generation of a novel human induced pluripotent stem cell (iPSC) line. Reprogramming of peripheral blood mononuclear cells from a patient with dilated cardiomyopathy carrying the LMNA p.Asp364His variant successfully generated the novel human iPSC line YCMi003-A.
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