{"id":"W3082507740","doi":"10.1016/j.scr.2020.101964","title":"Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene","year":2020,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Boniface Hospital; University of Manitoba","funders":"Canadian Institutes of Health Research","keywords":"Induced pluripotent stem cell; Biology; Genetics; Mitochondrial DNA; Gene; Mitochondrial disease; Mutation; Compound heterozygosity; Stem cell; Leigh disease; Embryonic stem cell","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001501337,0.000250129,0.0002896031,0.0004820323,0.0003583406,0.0002658424,0.0002191295,0.0005022625,0.007067539],"category_scores_gemma":[0.0003901147,0.0001397085,0.000228087,0.0003708599,0.0001600294,0.0001804611,0.0002886461,0.0007047834,0.002186587],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009579892,"about_ca_system_score_gemma":0.0001803156,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007508933,"about_ca_topic_score_gemma":0.0008874075,"domain_scores_codex":[0.9998719,0.00001537066,0.00002510126,0.00003691078,0.00003584653,0.00001486905],"domain_scores_gemma":[0.9998827,0.00004063972,0.00000806463,0.00002538207,0.00001390682,0.00002916133],"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":[0.0003655613,0.0002372828,0.008267372,0.0001389552,0.00004550037,0.02550041,0.0006555837,0.0001973186,0.9355206,0.002131579,0.004080644,0.02285915],"study_design_scores_gemma":[0.0003353911,0.002481705,0.1054038,0.0001249211,0.0002701,0.204761,0.0008120432,0.003658384,0.4929698,0.001626523,0.1874541,0.0001022795],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9393775,0.004045887,0.01840146,0.00168909,0.0007638573,0.0008456968,0.0116931,0.0005488463,0.02263473],"genre_scores_gemma":[0.9371514,0.002282295,0.01551361,0.0007132687,0.0001632631,0.0005271694,0.02046028,0.0001025566,0.0230861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007067539,"threshold_uncertainty_score":0.02364326,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06086784647124688,"score_gpt":0.2794386260303716,"score_spread":0.2185707795591247,"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."}}