Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing
Genetic alterations in the PLP1 gene, i.e. point mutations and duplications, are associated with demyelinating disease Pelizaeus-Merzbacher. Here, we describe the generation of a human iPSC line harboring a PLP1 variant in codon 33 which leads to an amino acid change from cysteine to tyrosine. The e...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002623 |
| _version_ | 1797356325398642688 |
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| author | Marie-Kristin Schreiber Maria-Patapia Zafeiriou |
| author_facet | Marie-Kristin Schreiber Maria-Patapia Zafeiriou |
| author_sort | Marie-Kristin Schreiber |
| collection | DOAJ |
| description | Genetic alterations in the PLP1 gene, i.e. point mutations and duplications, are associated with demyelinating disease Pelizaeus-Merzbacher. Here, we describe the generation of a human iPSC line harboring a PLP1 variant in codon 33 which leads to an amino acid change from cysteine to tyrosine. The established PLP1C33Y iPSC line enables the study of PMD pathophysiology by investigating various cell types and –characteristics in our developed protocol for bioengineered neuronal organoids (BENOs)1. |
| first_indexed | 2024-03-08T14:25:57Z |
| format | Article |
| id | doaj.art-3cdf33fcf7aa48f2b2dce052c5f2e6ee |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-08T14:25:57Z |
| publishDate | 2024-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3cdf33fcf7aa48f2b2dce052c5f2e6ee2024-01-13T04:43:49ZengElsevierStem Cell Research1873-50612024-02-0174103276Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editingMarie-Kristin Schreiber0Maria-Patapia Zafeiriou1Institute of Pharmacology and Toxicology, University Medical Centre Göttingen, Germany; Multiscale BioImaging Cluster of Excellence (MBExC), Göttingen, GermanyInstitute of Pharmacology and Toxicology, University Medical Centre Göttingen, Germany; Multiscale BioImaging Cluster of Excellence (MBExC), Göttingen, Germany; Corresponding author.Genetic alterations in the PLP1 gene, i.e. point mutations and duplications, are associated with demyelinating disease Pelizaeus-Merzbacher. Here, we describe the generation of a human iPSC line harboring a PLP1 variant in codon 33 which leads to an amino acid change from cysteine to tyrosine. The established PLP1C33Y iPSC line enables the study of PMD pathophysiology by investigating various cell types and –characteristics in our developed protocol for bioengineered neuronal organoids (BENOs)1.http://www.sciencedirect.com/science/article/pii/S1873506123002623 |
| spellingShingle | Marie-Kristin Schreiber Maria-Patapia Zafeiriou Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing Stem Cell Research |
| title | Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing |
| title_full | Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing |
| title_fullStr | Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing |
| title_full_unstemmed | Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing |
| title_short | Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing |
| title_sort | generation of pelizaeus merzbacher disease pmd mutant plp1 c33y in induced pluripotent stem cell ipsc by crispr cas9 genome editing |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002623 |
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