Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A
Summary
Xeroderma pigmentosum group A (XPA) is an inherited skin disorder characterized by sensitivity to ultraviolet radiation. In Maghrebi patients, a homozygous mutation in exon 6 of the XPA gene (c.682C>T) results in the introduction of a premature termination codon. Using CRISPR/Cas9-mediated gene editing, this mutation was introduced into the well-characterized LUMCi004-A line. The resulting hiPSC line showed typical morphology, expressed markers of the undifferentiated state, was able to differentiate into the three germ layers in vitro and displayed a normal karyotype. When paired with its isogenic counterpart, this line represents a valuable resource to model the disease. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Widyastuti HP, van der Vaart B, Pachis ST, Freund C, Gidrol X, Raymond K |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep 20;81:103564 |
| PubMed | 39321748 |
| DOI | 10.1016/j.scr.2024.103564 |