SCIENTIFIC EVIDENCE

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.

The Journal of clinical investigation
Li Y, Ma K, Dong Z, Gao S, Zhang J, Huang S, Yang J, Fang G, Li Y, Li X, Welch C, Griffin EL, Ramaswamy P, Valivullah Z, Liu X, Dong J, Wang DW, Du J, Chung WK, Li Y.

Publication Overview

Key findings, Countstar context, and access to the original paper.
2024
3D Culture
Organoid Culture
Single-Cell Analysis
Stem Cell Research
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Key Finding
Cardiomyocytes and heart organoids derived from human induced pluripotent stem cells with C10orf71 frameshift variants also had contractile defects with normal electrophysiological activity. Mutation-specific pathophysiology may suggest therapeutic targets and more individualized therapy.
Countstar Connection
Isolated nuclei underwent nuclei-count assessment with Countstar (model not specified) before single-cell analysis in the 2024 The Journal of clinical investigation study.
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