{"id":"W2883157885","doi":"10.1016/j.scr.2018.07.012","title":"Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene","year":2018,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Pluripotent Stem Cells Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Instituto de Salud Carlos III; Ministerio de Ciencia e Innovación; Grantová Agentura České Republiky","keywords":"Reprogramming; Biology; SOX2; Induced pluripotent stem cell; KLF4; Mutation; Ataxia; Genetics; Gene; Immunocytochemistry; Neuroscience; Endocrinology; Embryonic stem cell","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002451908,0.0003442621,0.0004589175,0.0005684559,0.0003994689,0.0002564258,0.0002412797,0.0006202154,0.002211209],"category_scores_gemma":[0.0002578343,0.0001209554,0.0003958845,0.0003820992,0.0002381552,0.0001377615,0.0002634927,0.0005813642,0.0008669693],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001537173,"about_ca_system_score_gemma":0.0002700257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007614753,"about_ca_topic_score_gemma":0.0008560307,"domain_scores_codex":[0.999866,0.000008979041,0.00003271224,0.00003266959,0.00004028865,0.00001937061],"domain_scores_gemma":[0.9998707,0.0000308038,0.00001034291,0.00003035112,0.0000248086,0.00003296418],"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":[0.0002116039,0.0001320355,0.003278716,0.0001289431,0.00004065123,0.0125613,0.0003082055,0.0003231285,0.9705743,0.0007663028,0.001016741,0.01065807],"study_design_scores_gemma":[0.0001689565,0.0007317298,0.02516667,0.00008064522,0.0001999448,0.06237681,0.0002634204,0.003064987,0.8603507,0.0005144112,0.04702697,0.00005475003],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9665308,0.001703891,0.01642813,0.0004074477,0.0003330833,0.0005305106,0.005750881,0.0003901431,0.007924983],"genre_scores_gemma":[0.9616424,0.001860829,0.01739281,0.0002763089,0.00008932012,0.0003914833,0.009751143,0.0000748782,0.008520861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002211209,"threshold_uncertainty_score":0.007397234,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04616647708932676,"score_gpt":0.3183936986866669,"score_spread":0.2722272215973401,"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."}}