Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation

The induced pluripotent stem cells (iPSCs) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with compound heterozygous mutation of c.2374A > G/p.M792V and c.3949C > T/p.R1317W in the CPS1 gene by non -integrating vectors. The expression of pluripotency markers, potential for in vitro trilineage differentiation and exhibiting normal karyotype were demonstrated in the SDQLCHi061-A cell line. This cell line could provide a useful CPS1D model in vitro for further study.