Generation of induced pluripotent stem cell (iPSC) line from Charcot- Marie- Tooth disease patient with MPZ mutation (CMT1B)

초록

Charcot-Marie-Tooth disease (CMT1B) is an inherited neurological disorder caused by mutation of the myelin protein zero (MPZ) gene. We generated an induced pluripotent stem cell (iPSC) line from an 81-year-old patient with CMT1B by electroporating of lymphoblastoid cell lines with episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, and p53-targeting shRNA. The established iPSCs expressed various pluripotency markers, demonstrated the potential to differentiate into cells of the three germ layers in vitro, had a normal karyotype and retained the MPZ mutation. (C) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license