Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene

In this study, an induced pluripotent stem cell(iPSC) line was generated from human peripheral blood mononuclear cells (PBMC) of a 13year-old male patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. The iPSCs exhibited iPSC morphology, expression of the pluripotency markers and in vitro differentiation potential, and the CSUASOi005-A iPSC line retained the original mutation (c.527T> A) of RS1 with a normal karyotype.
Source: Stem Cell Research - Category: Stem Cells Source Type: research