Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2
Summary
The human iPS cell line, hiPS-RTT (FJMUi002-A), is derived from peripheral blood mononuclear cells (PBMCs) from a 12-year-old female RTT patient carrying a heterozygous p. R133C (c.397C > T) mutation in the MeCP2 gene. The hiPS-RTT cell line was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC and was free of genomically integrated reprogramming genes. The hiPS-RTT cell line had a normal karyotype, expressed pluripotency markers, and had capacity to form three germ layers in vitro and in vivo, which offering a useful resource to study the pathogenesis and treatment strategies of RTT. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Guo Y, Li J, Xie W, Huang H, Li JJ, Lin W, Lu YQ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Feb;74:103268 |
| PubMed | 38100910 |
| DOI | 10.1016/j.scr.2023.103268 |