{"id":"W4285097125","doi":"10.1016/j.scr.2022.102863","title":"Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg","year":2022,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"NBIA Disorders Association; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; Eli Lilly and Company","keywords":"Biology; Induced pluripotent stem cell; Germ layer; Sendai virus; Compound heterozygosity; Mutation; Neurodegeneration; Atrophy; Cell culture; Somatic cell; Cancer research; Gene; Genetics; Molecular biology; Pathology; Disease; Embryonic stem cell","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001460769,0.0002181857,0.0001974006,0.0002790347,0.000287243,0.0002264672,0.000221097,0.0003029246,0.002372033],"category_scores_gemma":[0.0001238393,0.000105126,0.000224567,0.0001839532,0.0001208878,0.0001050689,0.0002403883,0.0004698197,0.001163943],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007926954,"about_ca_system_score_gemma":0.0001704765,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003991701,"about_ca_topic_score_gemma":0.000587302,"domain_scores_codex":[0.9998887,0.000007560763,0.00002099417,0.00002783027,0.00004442855,0.00001048055],"domain_scores_gemma":[0.9999428,0.00001191124,0.00000749658,0.00001493244,0.0000100944,0.00001274397],"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":[0.00007574207,0.0000645458,0.001177874,0.00006293513,0.00001342603,0.002042377,0.0001717386,0.0001306432,0.9873187,0.0007245734,0.0007469702,0.007470476],"study_design_scores_gemma":[0.00005726896,0.0003591615,0.01049886,0.00004936602,0.00008481435,0.01575761,0.0002012251,0.001782686,0.9167297,0.0003620239,0.05408798,0.00002928876],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.926355,0.001968937,0.02997283,0.000413748,0.0004556859,0.000747553,0.01165458,0.0004800707,0.02795163],"genre_scores_gemma":[0.9246763,0.002581917,0.03115511,0.0003032145,0.00007022245,0.000683077,0.01588328,0.000133088,0.02451383],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002372033,"threshold_uncertainty_score":0.007935226,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2359374322178748,"score_gpt":0.3630944939774685,"score_spread":0.1271570617595937,"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."}}