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

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.