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. Bot...

Full description

Saved in:
Bibliographic Details
Published in:Stem cell research 2023-12, Vol.73, p.103249-103249, Article 103249
Main Authors: Rhode, J, Hagenau, L, Beimdiek, J, Ullmann, R, Hossain, F, Tzvetkova, A, Jensen, L R, Kuss, A W
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
Adenosine Triphosphatases - metabolism
Cell Line
CRISPR-Cas Systems - genetics
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation - genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103249