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Stem Cell Res. 2019 Aug 9;40:101533. doi: 10.1016/j.scr.2019.101533. [Epub ahead of print]

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

Author information

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.

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.

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