CRISPR/Cas9 engineered and whole-genome characterized KIT D816V-mutant human iPSC lines
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
Authors
- Harald Stachelscheid (ORCID: https://orcid.org/0000-0002-9283-4605)
- E. Blanc
- Duncan C. Miller (ORCID: https://orcid.org/0000-0001-9852-677X)
- Valeria Fernandez Vallone
- Yanyan Luo
- Jörg Scheffel
- Frank Siebenhaar
- Dieter Beule
- Jiajun He
Institutions
- Humboldt-Universität zu Berlin (DE)
- Affiliated Hospital of Southwest Medical University (CN)
- Fraunhofer Institute for Translational Medicine and Pharmacology (DE)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-03-01
- DOI
- https://doi.org/10.1016/j.scr.2026.103975
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 0.00