Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

The goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. This unique opportunity to study the initiation of retinoblastoma in the developing retina will shed light on the cell of origin for retinoblastoma and allow the investigators to study the earliest molecular and cellular events in retinoblastoma tumorigenesis. OBJECTIVES: * To establish the feasibility of producing induced pluripotent stem cells (iPSCs) from retinoblastoma patients with germline RB1 mutations (RB1-deficient iPSCs). * To validate human RB1-deficient iPSCs by confirming karyotype, pluripotency and RB1 mutation. * To differentiate the RB1-deficient iPSCs into retina as a model of the initiation of retinoblastoma in the developing retina.