Establishment of a human induced pluripotent stem cell line, KMUGMCi011-A, from a patient bearing a frameshift mutation in the KMT2D gene leading Kabuki syndrome 1
Summary
Kabuki syndrome 1 is a rare genetic disorder typically characterized by facial abnormalities, cognitive impairment, developmental delay and organ dysfunction. It is caused by a loss-of-function mutation in the KMT2D gene. The peripheral blood mononuclear cells from a patient carrying frameshift mutation in the KMT2D gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. This frameshift mutation results in a truncated protein. This established human induced pluripotent cell line will allow proper in vitro disease modelling of Kabuki syndrome 1. Copyright © 2026. Published by Elsevier B.V.
| Authors | Ura H, Hiyoshi T, Niida Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Sep 7;96:104099 |
| PubMed | 42710432 |
| DOI | 10.1016/j.scr.2026.104099 |