Generation of induced pluripotent stem cell (iPSC) line ZOCi003-A derived from peripheral blood mononuclear cells of X-linked juvenile retinoschisis harboring a hemizygous mutation in RS1 gene

Abstract

X-linked juvenile retinoschisis (XLRS) is an inherited disease characterized by splitting within inner retinal layers and impaired vision, which begins in childhood and occurs mostly in males. Peripheral blood mononuclear cells (PBMCs) were isolated from a seven-year-old boy carrying a hemizygous mutation in RS1 gene, and were reprogrammed into human induced pluripotent stem cells (iPSCs) using non-integrative episomal vectors. The cell line, ZOCi003-A, had normal karyotype, expressed pluripotency markers, and could differentiate into three germ layers in vivo. This IPSC line may be used for studying the molecular basis of XLRS and selecting potential therapeutic targets and drugs.