Generation of an induced pluripotent stem cell line (ZJUi007-A) from a 11-year-old patient of Fabry disease

PBMCs were collected from a patient with a novel GLA gene mutation (c.140G > A) which contributed to Fabry disease. Subsequently, an induced pluripotent stem cell (iPSC) line was derived using an episomal reprogramming method that transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28 and L-MYC into the PBMCs. The expected mutation in the iPSC line was confirmed by Sanger sequencing, while the pluripotency status was validated by immunofluorescence assay and flow cytometry for pluripotency markers, as well as teratoma formation.

Automated summary

In this study, PBMCs were collected from a patient with Fabry disease caused by a novel GLA gene mutation. An iPSC line was derived using an episomal reprogramming method, confirming the expected mutation and pluripotency status through various validation methods.