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 e...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002629 |
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| author | Halida P. Widyastuti Babet van der Vaart Spyridon T. Pachis Christian Freund Xavier Gidrol Karine Raymond |
| author_facet | Halida P. Widyastuti Babet van der Vaart Spyridon T. Pachis Christian Freund Xavier Gidrol Karine Raymond |
| author_sort | Halida P. Widyastuti |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e2eba29f88c0494fae6345de55264eb7 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-e2eba29f88c0494fae6345de55264eb72025-08-20T02:38:17ZengElsevierStem Cell Research1873-50612024-12-018110356410.1016/j.scr.2024.103564Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group AHalida P. Widyastuti0Babet van der Vaart1Spyridon T. Pachis2Christian Freund3Xavier Gidrol4Karine Raymond5Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, Netherlands; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Leiden, NetherlandsDepartment of Anatomy and Embryology, Leiden University Medical Center, Leiden, Netherlands; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Leiden, Netherlands; Leiden hiPSC Centre, Leiden University Medical Center, Leiden, NetherlandsDepartment of Anatomy and Embryology, Leiden University Medical Center, Leiden, Netherlands; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Leiden, NetherlandsDepartment of Anatomy and Embryology, Leiden University Medical Center, Leiden, Netherlands; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Leiden, Netherlands; Leiden hiPSC Centre, Leiden University Medical Center, Leiden, NetherlandsUniversity of Grenoble Alpes, CEA, INSERM, IRIG, UA13 BGE, Biomics, Grenoble, FranceDepartment of Anatomy and Embryology, Leiden University Medical Center, Leiden, Netherlands; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Leiden, Netherlands; University of Grenoble Alpes, CEA, INSERM, IRIG, UA13 BGE, Biomics, Grenoble, France; Corresponding author at: Sylviusweg 62, 2333 BE Leiden, Netherlands.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.http://www.sciencedirect.com/science/article/pii/S1873506124002629 |
| spellingShingle | Halida P. Widyastuti Babet van der Vaart Spyridon T. Pachis Christian Freund Xavier Gidrol Karine Raymond Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A Stem Cell Research |
| title | Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A |
| title_full | Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A |
| title_fullStr | Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A |
| title_full_unstemmed | Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A |
| title_short | Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A |
| title_sort | generation of xpa p arg228t mutant lumci004 a cell line for modeling xeroderma pigmentosum group a |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002629 |
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