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

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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
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article

CRISPR/Cas9 engineered and whole-genome characterized KIT D816V-mutant human iPSC lines

Harald Stachelscheid, E. Blanc, Duncan C. Miller, Valeria Fernandez Vallone et al.
Stem Cell Research
CRISPR and Genetic Engineering
article

CRISPR/Cas9 engineered and whole-genome characterized KIT D816V-mutant human iPSC lines

Harald Stachelscheid, E. Blanc, Duncan C. Miller, Valeria Fernandez Vallone, Yanyan Luo, Jörg Scheffel, Frank Siebenhaar, Dieter Beule, Jiajun He
article en

Abstract

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

Stem Cell Research
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)
Zero hunger
Openalex Percentile: Top 7%
CRISPR and Genetic Engineering
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