Derivation of human embryonic stem cell from spinal muscular atrophy patient

Pingyuan Xie; Hao Zhou; Xiaoying Zhou; Xiaomeng Zhao; Juan Du; Guangxiu Lu; Ge Lin; Qi Ouyang

doi:10.1016/j.scr.2015.12.030

Derivation of human embryonic stem cell from spinal muscular atrophy patient

Stem Cell Res. 2016 Mar;16(2):216-9. doi: 10.1016/j.scr.2015.12.030. Epub 2016 Jan 3.

Authors

Pingyuan Xie¹, Hao Zhou², Xiaoying Zhou³, Xiaomeng Zhao⁴, Juan Du⁵, Guangxiu Lu⁶, Ge Lin⁷, Qi Ouyang⁸

Affiliations

¹ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China.
² Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
³ National Engineering and Research Center of Human Stem Cell, Changsha, China.
⁴ Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁵ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁶ National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁷ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁸ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China. Electronic address: [email protected].

PMID: 27345972
DOI: 10.1016/j.scr.2015.12.030

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Cell Line
Embryo, Mammalian / cytology
Exons
Female
Flow Cytometry
Human Embryonic Stem Cells / cytology*
Human Embryonic Stem Cells / metabolism
Humans
Karyotype
Microscopy, Fluorescence
Muscular Atrophy, Spinal / pathology*
Real-Time Polymerase Chain Reaction
Survival of Motor Neuron 1 Protein / genetics
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

Survival of Motor Neuron 1 Protein
Transcription Factors