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DNA methylation fingerprint of a KDM5C loss-of-function mutation in patients with intellectual disability

ABSTRACT: DNA methylation fingerprint of a KDM5C loss-of-function mutation in patients with intellectual disability

PROVIDER: PRJNA427263 | ENA |

REPOSITORIES: ENA

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DNA methylation fingerprint of a KDM5C loss-of-function mutation in patients with intellectual disability

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Project description:We generated human induced pluripotent cells from intellectual disability patients carrying the c.2T>C mutation in KDM5C (Called “Mutant”). We generated a paired, isogenic human iPS cell line (called “Corrected”) using CRISPR/Cas9 and PiggyBac gene-editing technologies and conducted neuronal differentiation based on “Yichen Shi et al. Nat. Protoc. 7, 1836–1846 (2012)” to define differences in gene expression between the Mutant and Corrected during neurodevelopment.

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