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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).

Authors :
Batool L
Storozhuk O
Raab C
Madlen Beez C
Selig M
Harder A
Kurtz A
Source :
Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103184. Date of Electronic Publication: 2023 Aug 15.
Publication Year :
2023

Abstract

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.<br />Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.<br /> (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1876-7753
Volume :
71
Database :
MEDLINE
Journal :
Stem cell research
Publication Type :
Academic Journal
Accession number :
37619442
Full Text :
https://doi.org/10.1016/j.scr.2023.103184