Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing

被引：4

作者：

Giri, Subhajit ^{[1
]}

Purushottam, Meera ^{[2
]}

Viswanath, Biju ^{[2
]}

Muddashetty, Ravi S. ^{[1
]}

机构：

[1] Inst Stem Cell Sci & Regenerat Med INSTEM, GKVK Post,Bellary Rd, Bengaluru 560065, India

[2] Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Psychiat, Mol Genet & ADBS Lab, Bengaluru, India

来源：

STEM CELL RESEARCH | 2019年 / 39卷

关键词：

D O I：

10.1016/j.scr.2019.101494

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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 exonl, removing the start codon. This FMR1-KO cell line maintains stem cell like morphology, pluripotency, normal karyotype and ability to in-vitro differentiation.

引用

页数：5

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