Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion
Summary
We generated two human induced pluripotent cell (hiPSC) isogenic clones from an 11-year-old patient with 6q27 deletion syndrome. The heterozygous deletion encompasses approximately 240 kilobases, affecting 6 genes (promoter region of WDR27, coding regions of C6orf120, PHF10, DYNLT2, ERMARD, LINC00242). The patient suffered from epilepsy, psychosocial retardation, and a metabolic disorder. The patient also had a history of SHH-medulloblastoma as an infant. The generated hiPSCs represent a useful tool for modelling 6q27 deletion syndrome in vitro and understanding the molecular basis of the disorder. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Bianchini L, Sieber L, Hammad R, Schäfer R, Kutscher LM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Oct;80:103524 |
| PubMed | 39106599 |
| DOI | 10.1016/j.scr.2024.103524 |