Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation

Abstract

Retinitis pigmentosa (RP) is a group of inherited retinal disorders caused by genetic mutations, leading to progressive photoreceptors degeneration and eventual blindness. Mutations in CNGA1 can cause autosomal recessive retinitis pigmentosa (ARRP). Here, a human iPSC line of a retinitis pigmentosa patient was generated, with the mutation of CNGA1 gene (homozygous c.1621G > A; p.R 420 > Q), by using a non-integrating episomal vector system including OCT4, SOX2, c-Myc and KLF4. It is identified that the cell line showed a normal female karyotype (46, XX), expressed pluripotency markers, and had the ability to differentiate into three germ layers in vitro.