Generation of Five Induced Pluripotent Stem Cell Lines from Patients with MECP2 Duplication Syndrome
Publication Date
2-1-2024
Journal
Stem Cell Research & Therapy
DOI
10.1016/j.scr.2023.103292
PMID
38154383
PMCID
PMC10898976
PubMedCentral® Posted Date
2-1-2025
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
Humans, Male, Cell Differentiation, Gene Duplication, Induced Pluripotent Stem Cells, X-Linked Intellectual Disability, Methyl-CpG-Binding Protein 2
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.