Schreiber MK, Zafeiriou MP
Stem Cell Research
Stem Cell Res. 2023 Dec 7;74:103276.
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).