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

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 betw...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Stem cell research 2024-02, Vol.74, p.103292-103292, Article 103292
Hauptverfasser: Mendonca, Danielle, Cappuccio, Gerarda, Sheppard, Jennifer, Delacruz, Magdalena, Bengtsson, Jesse, Carvalho, Claudia M.B., Bajic, Aleksandar, Park, Hyekyung, Kim, Jean J., Jafar-Nejad, Paymaan, Coquery, Christine, Pehlivan, Davut, Suter, Bernhard, Maletic-Savatic, Mirjana
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103292