{"id":"W4381848774","doi":"10.1016/j.scr.2023.103153","title":"Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant","year":2023,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Paul's Hospital; University of British Columbia","funders":"National Health and Medical Research Council; NSW Ministry of Health","keywords":"Induced pluripotent stem cell; Brugada syndrome; Biology; Sodium channel; G alpha subunit; Phenotype; Sudden cardiac death; Dilated cardiomyopathy; Heart failure; splice; Cardiomyopathy; Cell biology; Internal medicine; Protein subunit; Gene; Genetics; Neuroscience; Medicine; Embryonic stem cell; Materials science; Sodium","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":[0.0003888491,0.0003289742,0.000428254,0.0003898825,0.0002658029,0.0003058646,0.0002986108,0.0006802136,0.003011719],"category_scores_gemma":[0.0007246732,0.0002439903,0.0004605023,0.0004637144,0.0001957458,0.0001982483,0.0003007316,0.000832624,0.001515708],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001093916,"about_ca_system_score_gemma":0.0001631164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004283881,"about_ca_topic_score_gemma":0.0003812487,"domain_scores_codex":[0.9998053,0.00003044779,0.00004371747,0.00005093217,0.00004720016,0.0000223912],"domain_scores_gemma":[0.9997115,0.0001414736,0.00001923427,0.00005151071,0.00003107452,0.00004523705],"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":[0.0005036333,0.0004169606,0.01035048,0.0001461379,0.0001514849,0.02774186,0.0006536144,0.001022675,0.9224886,0.002858746,0.002589013,0.03107665],"study_design_scores_gemma":[0.001118965,0.006988859,0.08357777,0.0001718725,0.000649596,0.1760212,0.0007075629,0.02372933,0.6178185,0.00409214,0.08494389,0.0001804396],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9105917,0.003498541,0.05947588,0.002542947,0.001030915,0.001300127,0.0111537,0.0004968113,0.009909408],"genre_scores_gemma":[0.9357232,0.001619827,0.03988831,0.001211993,0.0001699321,0.0004669793,0.01469846,0.00008943339,0.00613179],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003011719,"threshold_uncertainty_score":0.01007527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05960804325206142,"score_gpt":0.290820907385559,"score_spread":0.2312128641334976,"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."}}