{"id":"W3010638475","doi":"10.1016/j.scr.2020.101748","title":"Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene","year":2020,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université Laval; Université du Québec à Chicoutimi","funders":"Fondation du Grand défi Pierre Lavoie; Centre d’Excellence en Recherche sur les Maladies Orphelines – Fondation Courtois; Rare Disease Foundation; Université du Québec à Chicoutimi","keywords":"Epidermolysis bullosa simplex; Sendai virus; Induced pluripotent stem cell; Biology; Keratin 14; Mutation; Germ layer; Epidermolysis bullosa; Keratin 5; Keratin; CRISPR; Cell culture; Phenotype; Embryonic stem cell; Cell biology; Molecular biology; Genetics; Gene; Transgene","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":[],"consensus_categories":[],"category_scores_codex":[0.001009447,0.0002147379,0.0002492286,0.00009530436,0.0002779344,0.0000669412,0.0006065444,0.0002232592,0.0000377352],"category_scores_gemma":[0.00002002156,0.0001293634,0.0001114059,0.0004845238,0.0001929145,0.00000667678,0.0002865326,0.0005242525,0.00001858997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003972727,"about_ca_system_score_gemma":0.0001748017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003267341,"about_ca_topic_score_gemma":0.0002518909,"domain_scores_codex":[0.9959536,0.001724512,0.0003685476,0.0006316401,0.0008064855,0.0005152524],"domain_scores_gemma":[0.9985976,0.0001538563,0.0001412176,0.0006585914,0.0003259458,0.0001228487],"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":[0.0002734297,0.0001662479,0.0002482413,0.00004693533,0.00005454418,0.0002530196,0.001950987,0.0002863891,0.9894871,0.000005204905,0.000615153,0.006612783],"study_design_scores_gemma":[0.001022457,0.002385109,0.0001635348,0.00001176675,0.00001955079,0.00005130815,0.005088893,0.001209813,0.9890515,0.00001096479,0.0008106785,0.0001744623],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956695,0.001287953,0.0002439354,0.00133811,0.00002229765,0.0009884232,0.00005381887,0.000006807014,0.0003891418],"genre_scores_gemma":[0.9984756,0.0001265314,0.00005421953,0.0001810946,0.00022787,0.0001599154,0.0005253647,0.00003170914,0.0002177581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006438321,"threshold_uncertainty_score":0.5275287,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09513702871762296,"score_gpt":0.3186632084872586,"score_spread":0.2235261797696356,"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."}}