Derivation of human embryonic stem cell from spinal muscular atrophy patient

作者:Xie, Pingyuan; Zhou, Hao; Zhou, Xiaoying; Zhao, Xiaomeng; Du, Juan; Lu, Guangxiu; Lin, Ge; Ouyang, Qi*
来源:Stem Cell Research, 2016, 16(2): 216-219.
DOI:10.1016/j.scr.2015.12.030

摘要

We established a human embryonic stem cell (hESC) line chHES-427 from the abnormal embryo carrying homozygous deletion of exon 7 of survival motor neuron gene (SMN). This cell line maintained a normal karyotype 46, XX during long-term culture. Further characteristic analysis suggested that the cells expressed the pluripotency-related markers and had the capacity to differentiate into the derivatives from the three germ layers in vitro.