AI Article Synopsis
- Xeroderma pigmentosum group A (XPA) is a genetic skin disorder that makes individuals highly sensitive to UV radiation, particularly impacting individuals of Maghrebi descent due to a specific mutation in the XPA gene.
- The mutation (c.682C>T) results in a premature stop signal, and researchers used CRISPR/Cas9 gene editing to create a modified human induced pluripotent stem cell (hiPSC) line with this mutation.
- The edited hiPSC line maintained normal characteristics and functionality, making it a useful model for studying XPA and its effects in a lab setting.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.scr.2024.103564 | DOI Listing |
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