Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene

Sicong Zeng; Lvjun Liu; Qi Ouyang; Yan Zhao; Ge Lin; Liang Hu; Wen Li

doi:10.1016/j.scr.2016.08.015

Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene

Stem Cell Res. 2016 Sep;17(2):208-211. doi: 10.1016/j.scr.2016.08.015. Epub 2016 Aug 28.

Authors

Sicong Zeng¹, Lvjun Liu¹, Qi Ouyang², Yan Zhao³, Ge Lin⁴, Liang Hu⁴, Wen Li⁵

Affiliations

¹ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
² 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.
³ National Engineering and Research Center of Human Stem Cell, Changsha, China.
⁴ 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.
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. Electronic address: [email protected].

PMID: 27879208
DOI: 10.1016/j.scr.2016.08.015

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.

Publication types

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

MeSH terms

Base Sequence
Cell Differentiation
Cells, Cultured
Cellular Reprogramming*
DNA Mutational Analysis
Fibroblasts / cytology*
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells / cytology
Induced Pluripotent Stem Cells / metabolism*
Karyotype
Polymorphism, Single Nucleotide
Retinoblastoma / genetics
Retinoblastoma / metabolism
Retinoblastoma / pathology*
Retinoblastoma Binding Proteins / genetics*
Transcription Factors / genetics
Transcription Factors / metabolism
Ubiquitin-Protein Ligases / genetics*

Substances

RB1 protein, human
Retinoblastoma Binding Proteins
Transcription Factors
Ubiquitin-Protein Ligases