title: Derivation of human embryonic stem cell from spinal muscular atrophy patient.
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.
authors.affiliation: 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.
authors.forename: Pingyuan
authors.initials: P
authors.lastname: Xie
authors.affiliation: Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Zhou
authors.affiliation: National Engineering and Research Center of Human Stem Cell, Changsha, China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
authors.forename: Xiaomeng
authors.initials: X
authors.lastname: Zhao
authors.affiliation: 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.
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.affiliation: 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.
authors.forename: Guangxiu
authors.initials: G
authors.lastname: Lu
authors.affiliation: 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.
authors.forename: Ge
authors.initials: G
authors.lastname: Lin
authors.affiliation: 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: loretta0730@163.com.
authors.forename: Qi
authors.initials: Q
authors.lastname: Ouyang
mesh_terms: D002454:Cell Differentiation; D002460:Cell Line; D004622:Embryo, Mammalian / Q000166:cytology; D005091:Exons; D005260:Female; D005434:Flow Cytometry; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D059785:Karyotype; D008856:Microscopy, Fluorescence; D009134:Muscular Atrophy, Spinal / Q000473:pathology*; D060888:Real-Time Polymerase Chain Reaction; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D055533:Survival of Motor Neuron 1 Protein; D014157:Transcription Factors