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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 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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| Author: | J. Rhode, Lisa Hagenau, Julia Beimdiek, Reinhard Ullmann, Faruq Hossain, Ana Tzvetkova, Lars Riff Jensen, Andreas Walter Kuss |
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| URN: | urn:nbn:de:gbv:9-opus-106286 |
| DOI: | https://doi.org/10.1016/j.scr.2023.103249 |
| ISSN: | 1876-7753 |
| Parent Title (English): | Stem Cell Research |
| Publisher: | Elsevier |
| Place of publication: | Amsterdam |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2023/11/16 |
| Date of first Publication: | 2023/12/01 |
| Release Date: | 2024/02/22 |
| Volume: | 73 |
| Article Number: | 103249 |
| Page Number: | 6 |
| Faculties: | Universitätsmedizin / Interfakultäres Institut für Genetik und Funktionelle Genomforschung (UMG) |
| Collections: | Artikel aus DFG-gefördertem Publikationsfonds |
| Licence (German): |  Creative Commons - Namensnennung-Nicht kommerziell-Keine Bearbeitung 4.0 International |