371 Decreased Contraction Rate, Altered Calcium Transients, and Increased Proliferation seen in Patient-specific iPSC-CMs Modeling Ebsteins Anomaly and Left Ventricular Noncompaction

371 Decreased Contraction Rate, Altered Calcium Transients, and Increased Proliferation seen in Patient-specific iPSC-CMs Modeling Ebsteins Anomaly and Left Ventricular Noncompaction

OBJECTIVES/GOALS: In a familial case where 10 of 17 members inherited EA/LVNC in an autosomal dominant pattern, we discovered a novel, damaging missense variant in the gene KLHL26 that segregates with disease and comprises an altered electrostatic surface profile, likely decoupling the CUL3-interact...

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Bibliographic Details
Main Authors: Sai Suma Samudrala, Melissa Anfinson, Matthew Cavanaugh, Min-Su Kim, Peter Lamberton, Jackson Radandt, Ryan Brown, Huan Ling Liang, Karl Stamm, Afzal Zeeshan, Jennifer Strande, Michele Frommelt, John W. Lough, Robert Fitts, Michael E. Mitchell, Aoy Tomita-Mitchel
Format: Article
Language:English
Published: Cambridge University Press 2022-04-01
Series:Journal of Clinical and Translational Science
Online Access:https://www.cambridge.org/core/product/identifier/S2059866122002114/type/journal_article

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https://www.cambridge.org/core/product/identifier/S2059866122002114/type/journal_article

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