{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004806279,0.000246485,0.0004153982,0.000414287,0.0002644794,0.00003213596,0.00006125167,0.0001463276,0.00001614546],"category_scores_gemma":[0.000009494883,0.0001859535,0.00007238172,0.0009848913,0.0001112364,0.000147367,0.00009419226,0.0004115215,0.00002535425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001402901,"about_ca_system_score_gemma":0.0003402522,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002248798,"about_ca_topic_score_gemma":0.00003807743,"domain_scores_codex":[0.997132,0.0004364188,0.0003547829,0.0006760017,0.000856848,0.0005439512],"domain_scores_gemma":[0.9981881,0.00009748977,0.0001771824,0.000493888,0.0006516659,0.0003917157],"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":[0.006402887,0.0003191532,0.0003676147,0.0003461197,0.0002026777,0.002773216,0.001638095,0.003334617,0.9755827,0.000006966393,0.0001983301,0.00882768],"study_design_scores_gemma":[0.005432846,0.01068219,0.009938342,0.0003723901,0.0004215893,0.0002083552,0.001341275,0.09241898,0.8782766,0.00003031443,0.0003907597,0.0004863458],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996688,0.001109173,0.000146425,0.00018766,0.0001080967,0.001543089,0.000111559,0.0000669029,0.00003906241],"genre_scores_gemma":[0.9971563,0.0004478069,0.00006067185,0.00001752957,0.000457754,0.00007387926,0.001447054,0.00004755197,0.0002914814],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09730604,"threshold_uncertainty_score":0.7582964,"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."}}