TY - JOUR
T1 - Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation
AU - Zhu, S.
AU - Law, A.H.Y.
AU - Deng, R.
AU - Poon, E.N.Y.
AU - Lo, C.W.
AU - Kwong, A.K.Y.
AU - Liang, R.
AU - Chan, K.Y.K.
AU - Wong, W.L.
AU - Tan-Un, K.C.
AU - Pijnappel, W.W.M.P.
AU - Chan, G.C.F.
AU - Chan, S.H.S.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
U2 - 10.1016/j.scr.2020.102040
DO - 10.1016/j.scr.2020.102040
M3 - Article
C2 - 33099108
VL - 49
JO - Stem Cell Research
JF - Stem Cell Research
ER -