Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation
Summary
A human induced pluripotent stem cell (iPSC) line was generated from patient with type 1 neurofibromatosis (NF-1), carrying heterozygous mutation in NF1 gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of KFL4, OCT4, SOX2, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and is able to differentiate into three germ layers in vitro. This iPSC line represents a valuable cell model for NF1 in humans. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Xin H, Li Y, Zhang K, Ji A, Fan M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103568 |
| PubMed | 39332134 |
| DOI | 10.1016/j.scr.2024.103568 |