{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004825699,0.0001141604,0.0001800821,0.00009028609,0.0009973947,0.00005209008,0.0006734196,0.00003524807,0.0001957361],"category_scores_gemma":[0.00009128263,0.00007177884,0.0001349502,0.000571922,0.0002774097,0.00007413188,0.0007069522,0.0004726345,0.000007101316],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004085379,"about_ca_system_score_gemma":0.0000721629,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003735004,"about_ca_topic_score_gemma":0.00002814462,"domain_scores_codex":[0.9956003,0.001977721,0.0003750962,0.000397414,0.001319344,0.0003301454],"domain_scores_gemma":[0.9984312,0.0006174155,0.000210223,0.0005400774,0.0001301154,0.00007095906],"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":[0.00006369649,0.0002027515,0.0003919188,0.00003017686,0.000003372873,0.00001614994,0.001083599,0.002833247,0.9929141,0.00033688,0.0002576705,0.001866418],"study_design_scores_gemma":[0.0005410064,0.0006322569,0.004117904,0.0000131243,0.00001564708,0.000005354749,0.0007557262,0.004344904,0.9857821,0.0004666228,0.003217741,0.0001075388],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974163,0.0003548054,0.00001728,0.0001820435,0.0002603396,0.000733281,0.0002086053,0.00001422521,0.0008131668],"genre_scores_gemma":[0.9991396,0.00002572598,0.000007046363,0.0001772633,0.0000830267,0.00009147129,0.00001267778,0.0000173806,0.0004458172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007131944,"threshold_uncertainty_score":0.7671254,"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."}}