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. Copyright © 2021. Published by Elsevier B.V.

Authors Zhu Y, Zhang L, Wang G, Zhao J, Hou X, Wu H, Xu Y, Mao J, Liu Z, Zhang J
Journal Stem cell research
Publication Date 2021 Aug;55:102475
PubMed 34365103
DOI 10.1016/j.scr.2021.102475

Research Projects

Cell Lines