Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome

Stem Cell Res. 2024 Feb:74:103292. doi: 10.1016/j.scr.2023.103292. Epub 2023 Dec 21.

Abstract

MECP2 Duplication Syndrome (MDS) is a rare, severe neurodevelopmental disorder arising from duplications in the Xq28 region containing the MECP2 gene that predominantly affects males. We generated five human induced pluripotent stem cell (iPSC) lines from the fibroblasts of individuals carrying between 0.355 and 11.2 Mb size duplications in the chromosomal locus containing MECP2. All lines underwent extensive testing to confirm MECP2 duplication and iPSC-related features such as morphology, pluripotency markers, and trilineage differentiation potential. These lines are a valuable resource for molecular and functional studies of MDS as well as screening for a variety of therapeutic approaches.

MeSH terms

  • Cell Differentiation
  • Gene Duplication
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Mental Retardation, X-Linked* / genetics
  • Methyl-CpG-Binding Protein 2* / genetics

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2

Supplementary concepts

  • Lubs X-linked mental retardation syndrome