Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A)
Summary
We describe the generation of two human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) using a non-integrative episomal reprogramming strategy. The first cell line was derived from a NF1 patient with the genetic variant c.1466A>G (BCRTi011-A) which leads to a cryptic splice site and aberrant splicing. The second one was created from a healthy relative of first-degree (BCRTi010-A). The generated iPSC lines were shown to have tri-lineage differentiation potential, a normal karyotype, and expression of pluripotent markers. Both iPSC lines provide a powerful tool for in vitro disease modeling and therapy development. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Batool L, Storozhuk O, Raab C, Madlen Beez C, Selig M, Harder A, Kurtz A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Sep;71:103184 |
| PubMed | 37619442 |
| DOI | 10.1016/j.scr.2023.103184 |