Human Sandhoff Disease Cerebral Organoids Exhibit Enlarged Size, Increased Cellular Proliferation, and Impaired Differentiation
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of b-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside. It features catastrophic neurodegeneration and death in early childhood. How the lysosomal accumulation of ganglioside might affect the early development of the nervous system is not understood. Recently, cerebral organoids derived from induced pluripotent stem (iPS) cells h...
Provenance — who produced it, who reused it
Linked to 1 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.
- Cerebral organoids derived from Sandhoff disease-induced pluripo... 2018 · 107 cites
Deep data QC
83/100 · BStandardized, field-standard QC computed by touching the data — every metric states how it was obtained · evidence: measured
Bulk RNA-seq (human). Grade B: good base quality (Q30=96.7%, base quality=37.9) but severely elevated PCR duplicates (78.5%) indicate amplification bias or low library complexity; this will confound expression quantitation for lowly-abundant transcripts. All metrics measured. Reusable for robust differential expression but not for absolute quantitation or isoform-level inference.
The B grade is a transparent weighted average. Each metric below scored from 0–100% against the published bulk-RNA-seq thresholds, weighted by its importance; nothing is hidden or subjective.
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0