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: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-02-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002623 |