Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2

Ruizhu Zeng; Harwin Sidik; Kim S Robinson; Franklin L Zhong; Bruno Reversade; Mahmoud A Pouladi

doi:10.1016/j.scr.2019.101533

Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2

Stem Cell Res. 2019 Oct:40:101533. doi: 10.1016/j.scr.2019.101533. Epub 2019 Aug 9.

Authors

Ruizhu Zeng¹, Harwin Sidik¹, Kim S Robinson², Franklin L Zhong³, Bruno Reversade⁴, Mahmoud A Pouladi⁵

Affiliations

¹ Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, 138648, Singapore.
² Institute of Medical Biology, A*STAR, Immunos, 138648, Singapore; Skin Research Institute of Singapore, Immunos, 138648, Singapore.
³ Institute of Molecular and Cell Biology, A*STAR, Proteos, 138673, Singapore.; Institute of Medical Biology, A*STAR, Immunos, 138648, Singapore; Skin Research Institute of Singapore, Immunos, 138648, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, 636921, Singapore.
⁴ Institute of Molecular and Cell Biology, A*STAR, Proteos, 138673, Singapore.; Institute of Medical Biology, A*STAR, Immunos, 138648, Singapore; Department of Paediatrics, National University of Singapore, 1E Kent Ridge Road, 119228, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey.
⁵ Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, 138648, Singapore; Department of Medicine, National University of Singapore, 117597, Singapore; Department of Physiology, National University of Singapore, 117597, Singapore. Electronic address: map@pouladilab.org.

PMID: 31450191
DOI: 10.1016/j.scr.2019.101533

Abstract

Rett syndrome (RTT) is a childhood neurodevelopmental disorder caused by mutations in MECP2. To study the molecular mechanisms underlying RTT, four sublines of H1 hESCs were generated, carrying a hemizygous knockout or mutant allele of MECP2. Exons 3 and 4 of MECP2 were targeted using the CRISPR/Cas9 nuclease system.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

CRISPR-Cas Systems / genetics
Cell Differentiation
Cell Line
Embryonic Stem Cells / cytology*
Embryonic Stem Cells / metabolism
Exons
Gene Editing*
Humans
Karyotype
Methyl-CpG-Binding Protein 2 / genetics*
Rett Syndrome / genetics
Rett Syndrome / pathology

Substances

Methyl-CpG-Binding Protein 2