{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002194487,0.0002575517,0.0002662491,0.0003907746,0.0002767375,0.0003265777,0.0002738788,0.000503884,0.00371408],"category_scores_gemma":[0.0002897089,0.0001515208,0.0002972982,0.0002593016,0.0002605697,0.0001494412,0.0003020303,0.0007122261,0.001073322],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001432855,"about_ca_system_score_gemma":0.000316151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007539619,"about_ca_topic_score_gemma":0.0008889604,"domain_scores_codex":[0.9998627,0.00001377348,0.00002880625,0.00003425786,0.00004434858,0.00001610331],"domain_scores_gemma":[0.9999002,0.00002752976,0.00001242875,0.00002073388,0.00001064314,0.00002854959],"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":[0.00008005873,0.0001251546,0.001689563,0.00005973651,0.00001597464,0.002475337,0.0001501721,0.0002328344,0.9860617,0.0008936134,0.0004900452,0.007725785],"study_design_scores_gemma":[0.0001552869,0.0007889071,0.0171238,0.00005203138,0.00009721613,0.02275619,0.000210483,0.003068489,0.9274908,0.0003538225,0.02785066,0.00005236221],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9723015,0.0009069109,0.01487891,0.0002819614,0.0001385429,0.0005770558,0.004077471,0.0003213487,0.006516278],"genre_scores_gemma":[0.9669781,0.0009198242,0.01940497,0.0001580748,0.00002182403,0.0002909572,0.005113672,0.00006882937,0.007043762],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00371408,"threshold_uncertainty_score":0.01242483,"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."}}