We derived an integration-free induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 23-year-old male patient. This patient carries a 5′ splice site point mutation in intron 1 (c.31+1G > A) of the dystrophin gene, a mutation associated with X-linked dilated cardiomyopathy (XLDCM). Sendai virus was used to reprogram the PBMCs and deliver OCT3/4, SOX2, c-MYC, and KLF4 factors. The iPSC line (HKUi002-A) generated preserved the mutation, expressed common pluripotency markers, differentiated into three germ layers in vivo, and exhibited a normal karyotype. Further differentiation into cardiomyocytes enables the study of the disease mechanisms of XLDCM.

dx.doi.org/10.1016/j.scr.2020.102040, hdl.handle.net/1765/133972
Stem Cell Research
Department of Pharmacology

Zhu, S, Law, A.H.Y., Deng, R., Poon, E.N.Y., Lo, C.W., Kwong, A.K.Y., … Chan, S.H.S. (2020). Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation. Stem Cell Research, 49. doi:10.1016/j.scr.2020.102040