Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing.
| Title | Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Giri S, Purushottam M, Viswanath B, Muddashetty RS |
| Journal | Stem Cell Res |
| Volume | 39 |
| Pagination | 101494 |
| Date Published | 2019 Aug |
| ISSN | 1876-7753 |
| Abstract | 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. |
| DOI | 10.1016/j.scr.2019.101494 |
| Alternate Journal | Stem Cell Res |
| PubMed ID | 31280136 |