This study describes a disease model for Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD), in which iPSC lines with truncating mutations in the SRCAP gene were generated using CRISPR/Cas9 technology.
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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