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)


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

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