title: Generation of human embryonic stem cell line chHES-472 from abnormal embryos diagnosed with Spinocerebellar ataxia type 3.
abstract: Spinocerebellar ataxia type3 (SCA3) is an autosomal dominant neurodegenerative disorder. Human embryonic stem cell line chHES-472 was derived from abnormal embryo donated by SCA3 patient after preimplantation genetic diagnosis (PGD) treatment. This cell line had a normal karyotype and retained the disease-causing mutant in ATXN3 gene. Characteristic tests proved that the embryonic stem cell line presented typical markers of pluripotency and had the capability to form the three germlayers in vivo.
authors.affiliation: Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
authors.forename: Lvjun
authors.initials: L
authors.lastname: Liu
authors.affiliation: Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
authors.forename: Sicong
authors.initials: S
authors.lastname: Zeng
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.
authors.forename: Yi
authors.initials: Y
authors.lastname: Sun
authors.affiliation: National Engineering and Research Center of Human Stem Cell, Changsha, China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
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: D000818:Animals; D000067699:Ataxin-3 / Q000235:genetics; D002460:Cell Line; D000067470:Cellular Reprogramming Techniques; D004622:Embryo, Mammalian / Q000166:cytology; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D006801:Humans; D059785:Karyotype; D017827:Machado-Joseph Disease / Q000235:genetics / Q000473:pathology*; D008297:Male; D051379:Mice; D016513:Mice, SCID; D008856:Microscopy, Fluorescence; D010957:Plasmids / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000235:genetics; D013724:Teratoma / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D012097:Repressor Proteins; D014157:Transcription Factors; C092341:ATXN3 protein, human; D000067699:Ataxin-3