{"id":"W4417447929","doi":"10.64898/2025.12.15.694396","title":"Electrophysiological abnormalities associated with a <i>CACNA1D</i> variant are rescued by AAV6-Cav1.3-C-terminus gene therapy in patient-iPSC-CMs","year":2025,"lang":"en","type":"article","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institut Universitaire en Santé Mentale de Québec","funders":"National Heart, Lung, and Blood Institute; American Heart Association","keywords":"Electrophysiology; Gene; Downregulation and upregulation; Induced pluripotent stem cell; Cardiac arrhythmia; Calcium; Regulator; Electrical conduction system of the heart; Calcium channel; Voltage-dependent calcium channel","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002874528,0.0004693667,0.000427901,0.0003021262,0.0002215167,0.0003739074,0.0002714306,0.000687746,0.001721375],"category_scores_gemma":[0.0002042941,0.0001639392,0.0005018321,0.0001277881,0.0003304538,0.0001459851,0.0002795863,0.0008969197,0.0006383178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001535923,"about_ca_system_score_gemma":0.0001705477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002421945,"about_ca_topic_score_gemma":0.0003222656,"domain_scores_codex":[0.999804,0.00002090628,0.00003481453,0.00005236626,0.00005853445,0.00002940676],"domain_scores_gemma":[0.9998611,0.00002883722,0.00004453168,0.00002229609,0.00001001276,0.00003313915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005564839,0.00008100269,0.0004392055,0.00004393724,0.00001668451,0.001226999,0.00004109207,0.0002199847,0.9948729,0.0003208118,0.0001621197,0.002519581],"study_design_scores_gemma":[0.000207362,0.001272137,0.01099024,0.00005607615,0.0001741752,0.02024939,0.00008790708,0.00618099,0.9457913,0.0004739028,0.01448232,0.00003421791],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9831169,0.0006591775,0.01174447,0.0002264268,0.0001240329,0.0001602921,0.00134503,0.0004987156,0.002125049],"genre_scores_gemma":[0.9922296,0.0005037526,0.003829484,0.0001494942,0.00002324111,0.0001077246,0.001260287,0.00007879045,0.001817682],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001721375,"threshold_uncertainty_score":0.005758584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005810274972310068,"score_gpt":0.1982521343716915,"score_spread":0.1924418593993814,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}