{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003616202,0.0002432565,0.000232285,0.0004885491,0.0003726394,0.0003427361,0.0003678807,0.000563016,0.001721489],"category_scores_gemma":[0.0005179244,0.0001685585,0.0003352651,0.0002650981,0.0002213465,0.0001584408,0.000462675,0.0007014524,0.0007812328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001472027,"about_ca_system_score_gemma":0.0002109549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006690415,"about_ca_topic_score_gemma":0.0008189471,"domain_scores_codex":[0.9996998,0.00003060284,0.0000700514,0.00005682541,0.00010941,0.00003328462],"domain_scores_gemma":[0.999761,0.00005294894,0.00003870142,0.00004657912,0.00004428347,0.00005634493],"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":[0.00006947155,0.00006695282,0.0008688401,0.00002985499,0.00001108855,0.00078841,0.0001541382,0.00009481898,0.9935231,0.0005883445,0.0001349137,0.003669973],"study_design_scores_gemma":[0.00007683165,0.0003041447,0.01447478,0.00002782568,0.00007911693,0.007591553,0.0001876123,0.00206482,0.9583729,0.0002400274,0.01655287,0.00002750116],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9565725,0.0005338136,0.0316071,0.0002283727,0.0001776584,0.0007863062,0.002729597,0.0001019464,0.007262722],"genre_scores_gemma":[0.9476549,0.0008380592,0.03432735,0.0002017188,0.00003125969,0.000584563,0.007956184,0.0001332714,0.008272697],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001721489,"threshold_uncertainty_score":0.005759001,"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."}}