Reprogramming of patient derived cells is becoming a more and more common methodology for disease studies, especially peripheral blood mononuclear cells (PBMCs). PBMCs are easy to collect and well-established protocols for reprogramming into iPSCs by using Lonza’s Nucleofector™ Devices exist.
Three recent examples for reprogramming of patient derived PBMC into iPSCs are presented here. Cell line CSUASOi004-A was derived from a 15-year-old female patient suffering from a PRPF6 mutation causing Retinitis Pigmentosa (Zhou et al., 2020). Cell line SDQLCHi017-A was derived from a 1-month-old patient with mutations in the NEB gene (Ma et al., 2020), and cell line SDQLCHi007-A was derived from a 4-year-old male patient diagnosed with Duchenne muscular dystrophy caused by mutations in the dystrophin gene (Guan et al., 2020). All these iPSCs were generated by delivering episomal vectors to the patient derived cells. All three generated cell lines still carry the disease mutations and show an iPSC-like morphology, expression of pluripotency markers, and a normal karyotype. Differentiation potential into all three germ layers was confirmed for all lines by qRT-PCR.
These results show that reprogramming of human somatic cells into iPSC by using Nucleofector™ Devices is an easy and helpful method to gain insights into disease mechanisms by using cells collected from patients suffering from these diseases.
Written by SST
