Three modified human IPSC lines containing mutations in the distal DEHMBA associated locus of the SRCAP gene

Abstract

We modified an existing human iPSC line (MHHi001-A), using CRISPR/Cas9, to introduce heterozygous frameshift mutations in a locus of the SRCAP gene that is associated with the DEHMBA disease (OMIM 619595). The modified iPSCs express several stem cell markers and are able to differentiate into cells originating from all three embryonic germ layers. No additional modifications or chromosomal defects were detected. The modified cells can serve as a model for the investigation of the involvement of SRCAP in DEHMBA (Developmental delay, Hypotonia, Musculoskeletal defects, and Behavioral Abnormalities) disease and/or its molecular functions in different cell types.