Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome.
Stem Cell Res
; 74: 103292, 2024 02.
Article
en En
| MEDLINE
| ID: mdl-38154383
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Discapacidad Intelectual Ligada al Cromosoma X
/
Proteína 2 de Unión a Metil-CpG
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Células Madre Pluripotentes Inducidas
Límite:
Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Reino Unido