{"id":"W4387767163","doi":"10.1016/j.scr.2023.103234","title":"Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A)","year":2023,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Institut Universitaire en Santé Mentale de Québec","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Fondation CHU de Québec; French Muscular Dystrophy Association; Advanced Foods and Materials Canada; U.S. Department of Defense","keywords":"Myotonic dystrophy; Biology; Induced pluripotent stem cell; Trinucleotide repeat expansion; Genetics; Myotonia; Allele; Gene; Cell biology; Molecular biology; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004202058,0.0004746021,0.0006099506,0.0005564113,0.0005236269,0.0003391943,0.0003736949,0.0001728577,0.00001930302],"category_scores_gemma":[0.00007260654,0.0004040774,0.00007232547,0.0009959614,0.0005278413,0.0003153989,0.0005513435,0.0004896348,0.00003723775],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005578004,"about_ca_system_score_gemma":0.0002136041,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001085753,"about_ca_topic_score_gemma":0.00003621376,"domain_scores_codex":[0.9946151,0.0009628302,0.0006284352,0.001385597,0.001551882,0.0008561042],"domain_scores_gemma":[0.9973148,0.000841948,0.0002595246,0.0005769701,0.000470243,0.0005365143],"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":[0.0002572951,0.0002348449,0.0327914,0.0002223202,0.00002891961,0.00009280978,0.001076808,0.000105111,0.9639503,0.00003133417,0.0001322078,0.001076658],"study_design_scores_gemma":[0.005157663,0.001161604,0.107152,0.00002597128,0.0001372576,0.000003372915,0.0009321042,0.002725267,0.8820415,0.00005576414,0.00006366272,0.0005438101],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961209,0.001058408,0.0000162405,0.00009332506,0.0001789404,0.001887202,0.0003914766,0.00008444359,0.0001690576],"genre_scores_gemma":[0.9981664,0.0008883153,0.00006316107,0.00006186456,0.0001899902,0.0001739039,0.00007093537,0.00008228801,0.0003031816],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08190878,"threshold_uncertainty_score":0.9998411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09546202840985792,"score_gpt":0.298171862985259,"score_spread":0.2027098345754011,"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."}}