title: Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism.
abstract: Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnfs*9), of TYR gene. Characteristic tests proved that the chHES-478 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
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: D000417:Albinism / Q000235:genetics / Q000473:pathology*; D000818:Animals; D001483:Base Sequence; D001755:Blastocyst / Q000166:cytology; D002454:Cell Differentiation; D002460:Cell Line; D004252:DNA Mutational Analysis; D058732:Embryoid Bodies / Q000166:cytology / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D006801:Humans; D059785:Karyotype; D051379:Mice; D016513:Mice, SCID; D008856:Microscopy, Fluorescence; D020125:Mutation, Missense; D010957:Plasmids / Q000235:genetics / Q000378:metabolism; D013724:Teratoma / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D014157:Transcription Factors