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
Summary
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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Rhode J, Hagenau L, Beimdiek J, Ullmann R, Hossain F, Tzvetkova A, Jensen LR, Kuss AW |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103249 |
| PubMed | 38006676 |
| DOI | 10.1016/j.scr.2023.103249 |