Article (Scientific journals)
Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing.
Giri, Subhajit; Purushottam, Meera; Viswanath, Biju et al.
2019In Stem Cell Research, 39, p. 101494
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Keywords :
FMR1; CRISPR-Cas Systems; Cell Differentiation; Stem Cells; Fragile X Mental Retardation Protein/genetics; Genotype; Human Embryonic Stem Cells/cytology/metabolism; RNA-Binding Proteins
Abstract :
[en] Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play important role in synaptic plasticity and translational regulation in neurons. We have generated a homozygous FMR1 knockout (FMR1-KO) hESC line using CRISPR/Cas9 based genome editing. It created a homozygous 280 nucleotide deletion at exon1, removing the start codon. This FMR1-KO cell line maintains stem cell like morphology, pluripotency, normal karyotype and ability to in-vitro differentiation.
Disciplines :
Genetics & genetic processes
Author, co-author :
Giri, Subhajit ;  Université de Liège - ULiège > Stem Cells-Developmental Neurobiology
Purushottam, Meera
Viswanath, Biju
Muddashetty, Ravi S.
Language :
English
Title :
Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing.
Publication date :
2019
Journal title :
Stem Cell Research
ISSN :
1873-5061
eISSN :
1876-7753
Publisher :
Elsevier, Amsterdam, Netherlands
Volume :
39
Pages :
101494
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
Available on ORBi :
since 31 May 2020

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