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

从MECP2重复综合征患者中生成5株诱导多能干细胞系

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作者:Danielle Mendonca ,Gerarda Cappuccio ,Jennifer Sheppard ,Magdalena Delacruz ,Jesse Bengtsson ,Claudia M B Carvalho ,Aleksandar Bajic ,Hyekyung Park ,Jean J Kim ,Paymaan Jafar-Nejad ,Christine Coquery ,Davut Pehlivan ,Bernhard Suter ,Mirjana Maletic-Savatic

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.

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