title: Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene.
abstract: Skin fibroblasts were obtained from a male patient diagnosed with retinoblastoma (RB) carrying a c.2663G>A mutation in the 25 exon of RB1 gene. RB-iPS cells was generated via delivered four reprogramming factors (OCT4, SOX2, NANOG and LIN28) into these skin fibroblasts. The RB-iPS cells retained the RB1 heterozygous mutation resulted in a truncated RB1 mRNA. Characteristic tests proved that the iPSC line presented typical markers of pluripotency and had the capability to form 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.
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.
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; 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: Qi
authors.initials: Q
authors.lastname: Ouyang
authors.affiliation: National Engineering and Research Center of Human Stem Cell, Changsha, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
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; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Hu
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. Electronic address: 33753582@qq.com.
authors.forename: Wen
authors.initials: W
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism*; D059785:Karyotype; D020641:Polymorphism, Single Nucleotide; D012175:Retinoblastoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D056286:Retinoblastoma Binding Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C000606393:RB1 protein, human; D056286:Retinoblastoma Binding Proteins; D014157:Transcription Factors; D044767:Ubiquitin-Protein Ligases