Establishment of a human induced pluripotent stem cell line (BTHBIOi005-A) from a retinitis pigmentosa patient with a MERTK gene mutation

RP38 is an autosomal recessive retinitis pigmentosa (RP) caused by mutations in the MERTK gene. In this study, peripheral blood mononuclear cells were isolated from a 26-year-old female patient with RP, who was confirmed to carry compound heterozygous MERTK variants (c.291_292delAC, p.T99Sfs*8; c.1296 + 1G > A). A human induced pluripotent stem cell (iPSC) line was successfully established through a non-integrating reprogramming system including OCT4, SOX2, C-MYC, LIN28, and KLF4. The established iPSC line maintained a normal karyotype, expressed pluripotency markers OCT4, SSEA4, SOX2, and NANOG at high levels, and was verified to possess trilineage differentiation potential in vitro.