Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A
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.
Authors
- Spyridon T. Pachis
- Halida P. Widyastuti (ORCID: https://orcid.org/0000-0002-4146-5213)
- Babet van der Vaart (ORCID: https://orcid.org/0000-0003-3534-6880)
- Christian Freund (ORCID: https://orcid.org/0000-0001-7416-8226)
- Karine Raymond (ORCID: https://orcid.org/0000-0001-5892-8117)
- Xavier Gidrol (ORCID: https://orcid.org/0000-0002-4233-3749)
Institutions
- Inserm (FR)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Leiden University Medical Center (NL)
- CEA Grenoble (FR)
- Laboratoire Biologie à Grande Échelle (FR)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-09-20
- DOI
- https://doi.org/10.1016/j.scr.2024.103564
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Institut National de la Santé et de la Recherche Médicale
- Novo Nordisk
- Leids Universitair Medisch Centrum
- Novo Nordisk Fonden