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Article

Choline Ameliorates Disease Phenotypes in Human iPSC Models of Rett Syndrome.

Neuromolecular medicine - 1 Sept 2016

Chin Eunice W M, Marcy Guillaume, Yoon Su-In, Ma Dongliang, Rosales Francisco J, Augustine George J, Goh Eyleen L K

Abstract excerpt

Rett syndrome (RTT) is a postnatal neurodevelopmental disorder that primarily affects girls. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene account for approximately 95 % of all RTT cases. To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene. We found that these...

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Source

Identifiers

PMID: 27379379
DOI: 10.1007/s12017-016-8421-y

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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