TY - JOUR
T1 - Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B)
AU - Son, Daryeon
AU - Kang, Phil Jun
AU - Yun, Wonjin
AU - You, Seungkwon
N1 - Funding Information:
This work was supported by the Bio & Medical Technology Development Program of the National Research Foundation of Korea funded by the Korea Ministry of Science, ICT & Future Planning (MSIP) NRF-2015M3A9B4071074 and School of Life Sciences and Biotechnology for BK21 PLUS, Korea University .
Publisher Copyright:
© 2017
PY - 2017/10
Y1 - 2017/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85029416726&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2017.08.002
DO - 10.1016/j.scr.2017.08.002
M3 - Article
C2 - 29034895
AN - SCOPUS:85029416726
SN - 1873-5061
VL - 24
SP - 5
EP - 7
JO - Stem Cell Research
JF - Stem Cell Research
ER -