{"id":"W3049210980","doi":"10.1016/j.scr.2020.101955","title":"Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene","year":2020,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Neuroscience of respiration and sleep","field":"Neuroscience","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Azrieli Foundation; Israel Science Foundation","keywords":"Congenital central hypoventilation syndrome; Homeobox; Biology; Induced pluripotent stem cell; Exon; Homeobox A1; Mutation; Genetics; Germ layer; Gene; Karyotype; Loss of heterozygosity; Hypoventilation; Embryonic stem cell; Chromosome; Anatomy; Respiratory system; Transcription factor; Allele","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007007025,0.0001347012,0.0001793105,0.000177896,0.0002285244,0.0002199912,0.0004013841,0.00005387229,0.00003827241],"category_scores_gemma":[0.0001398136,0.00009246422,0.00002892603,0.001003666,0.0002804871,0.0003171938,0.0001356003,0.0003031027,0.0000241331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000195651,"about_ca_system_score_gemma":0.0001002721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006129696,"about_ca_topic_score_gemma":0.0000504842,"domain_scores_codex":[0.9968265,0.0007329468,0.00033612,0.0005761523,0.001202484,0.0003257383],"domain_scores_gemma":[0.999078,0.0002742721,0.00009283141,0.0002974819,0.0001157162,0.0001416536],"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":[0.00009482227,0.00007236419,0.002545513,0.00001778036,7.065665e-7,0.00004004707,0.001281507,0.00003248926,0.9921106,0.0001360238,0.00004801795,0.003620101],"study_design_scores_gemma":[0.000854379,0.0006392071,0.009440231,0.00001903734,0.000004290654,0.00000554509,0.0003013083,0.02804952,0.9596824,0.00001681888,0.0008659574,0.0001213143],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962789,0.0000485651,0.0004596659,0.002429028,0.00009873958,0.0004812138,0.00002623928,0.00002373458,0.0001539087],"genre_scores_gemma":[0.9982716,0.0001549006,0.00006126339,0.001024996,0.000217731,0.0000224042,0.00001866524,0.00001753324,0.000210897],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03242823,"threshold_uncertainty_score":0.3770581,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1679277066289577,"score_gpt":0.3410021304145395,"score_spread":0.1730744237855818,"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."}}