Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3′-end of SRCAP using CRISPR/Cas9
Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3′-end of SRCAP using CRISPR/Cas9 technology. Both cel...
| Váldodahkkit: | , , , , , , , |
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| Materiálatiipa: | Artihkal |
| Giella: | English |
| Almmustuhtton: |
Elsevier
2023-12-01
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| Ráidu: | Stem Cell Research |
| Liŋkkat: | http://www.sciencedirect.com/science/article/pii/S1873506123002350 |
| Čoahkkáigeassu: | Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3′-end of SRCAP using CRISPR/Cas9 technology. Both cell lines are pluripotent, differentiate into the 3 germ layers and contain no genomic aberrations or off-target modifications. The cell lines form part of a human disease model to investigate the effects of truncating mutations in different regions of SRCAP. |
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| ISSN: | 1873-5061 |