Article
Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes.
American journal of human genetics - 4 Dec 2025
Kosaka Yasuhiro, Lopez Brandon, Kishimoto Nina, Jacob Shancy, Montenont Emilie, Huallanca Rodrigo, Coughenour Graeson, Di Paola Jorge, Ross Justyne, Lee Kristy, Rondina Matthew T, Bray Paul F, Rowley Jesse W
Abstract excerpt
The interpretation of genetic variants in inherited diseases, such as inherited platelet disorders (IPDs), remains a major clinical challenge, as most are classified as variants of uncertain significance (VUSs). A key barrier to functional evaluation is the lack of accessible, lineage-appropriate assays that reliably reflect native gene regulation and cell-specific biology. To address this gap, we developed...
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