CRISPR/Cas9 engineered and whole-genome characterized KIT D816V-mutant human iPSC lines
Summary
We report on the generation of human induced pluripotent stem cell (iPSC) lines, BIHi005-A-86 and BIHi005-A-87, carrying the KIT D816V mutation associated with Indolent Systemic Mastocytosis (ISM). To overcome the confounding genetic backgrounds of existing leukemic models, we introduced this gain-of-function mutation into the healthy BIHi005-A line using CRISPR/Cas9 editing. The resulting clones were validated via whole-genome sequencing (WGS) to confirm specific on-target editing and lack of predicted or disease-relevant off-target effects, while maintaining genomic stability. Together with the parental line, this resource provides an isogenic controlled platform for investigating KIT D816V-driven pathogenesis. Copyright © 2026. Published by Elsevier B.V.
| Authors | Luo Y, Vallone VF, Blanc E, Miller DC, He J, Stachelscheid H, Beule D, Scheffel J, Siebenhaar F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Mar 26;93:103975 |
| PubMed | 41916193 |
| DOI | 10.1016/j.scr.2026.103975 |