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Article

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.

Human molecular genetics - 1 Jun 2011

Cheung Aaron Y L, Horvath Lindsay M, Grafodatskaya Daria, Pasceri Peter, Weksberg Rosanna, Hotta Akitsu, Carrel Laura, Ellis James

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations lea...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21372149
DOI: 10.1093/hmg/ddr093
PMCID: PMC3090191

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21372149-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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