Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Additional authors note
  • Fig. S1. Loss of DJ-1 protein in homozygous c.192G>C mutation carriers.
  • Fig. S2. Characterization of iPSC and smNPC.
  • Fig. S3. Generation of gene-corrected fibroblasts.
  • Fig. S4. Schematic of genetic intervention to rescue aberrant splicing of c.192G>C PARK7.
  • Fig. S5. Transduction and differentiation of smNPC.
  • Fig. S6. Loading controls from Fig. 5 and RECTAS single treatment.
  • Fig. S7. Determination of cutoffs for wild_score and maxentscan_change.
  • Fig. S8. Western blots.
  • Table S1. Features of midbrain organoids extracted from image analysis.
  • Table S2. List of primers used for determination of gene expression by CYBR green qPCR.
  • Table S3. Hydrolysis probes and primers.
  • Legends for data files S1 to S3
  • References (4679)

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Other Supplementary Material for this manuscript includes the following:

  • Data file S1 (Microsoft Excel format). High-confidence sequence variants in the proband as determined by resequencing of the PARK7 gene.
  • Data file S2 (Microsoft Excel format). List of brain-expressed genes harboring variants uniquely identified in cases from both cohorts.
  • Data file S3 (Microsoft Excel format). Raw data.