Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication
Summary
The CMT1A variant accounts for over 60% of cases of Charcot-Marie-Tooth disease (CMT), one of the most common human neuropathies. The cause of CMT1A has been identified as the duplication of PMP22, a myelin protein expressed in Schwann cells. Yet, the pathological mechanisms have not been elucidated, and no treatment is currently available. In our study, we established an iPS cell line from a CMT1A patient with PMP22 duplication. The generated iPSCs maintain pluripotency and in vitro differentiation potency. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Liu X, Ishikawa KI, Hattori N, Akamatsu W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103401 |
| PubMed | 38537501 |
| DOI | 10.1016/j.scr.2024.103401 |