Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Bibliographic record
Abstract
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited neurodegenerative disorder causing progressive spasticity, ataxia and peripheral neuropathy, leading to significant motor and sensory impairments. To advance the study of ARSACS pathogenesis and therapeutic development, we generated eight induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts or peripheral blood mononuclear cells (PBMCs) using non-integrating Sendai virus-based reprogramming method and covering four different SACS gene mutations. These iPSC lines provide a powerful platform to investigate disease mechanisms, evaluate therapeutic candidates, and support the development of personalized medicine approaches for ARSACS.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".