Supplementary Materials

Supplementary Material for:

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

Dhruv Sareen, Jacqueline G. O’Rourke, Pratap Meera, A. K. M. G. Muhammad, Sharday Grant, Megan Simpkinson, Shaughn Bell, Sharon Carmona, Loren Ornelas, Anais Sahabian, Tania Gendron, Leonard Petrucelli, Michael Baughn, John Ravits, Matthew B. Harms, Frank Rigo, C. Frank Bennett, Thomas S. Otis, Clive N. Svendsen, Robert H. Baloh*

*Corresponding author. E-mail:

Published 23 October 2013, Sci. Transl. Med. 5, 208ra149 (2013)
DOI: 10.1126/scitranslmed.3007529

This PDF file includes:

  • Fig. S1. Characterization of C9ORF72 patient and control iPSCs.
  • Fig. S2. Confirmation of the absence of exogenous pluripotency genes in C9ORF72 patient iPSCs and generation of motor neuron precursors.
  • Fig. S3. Generation of control subject motor neuron cultures from iPSCs.
  • Fig. S4. RNA-seq analysis of SNP rs1075766 for identification of wild-type and expansion alleles, and differential C9ORF72 transcript analysis from Ref-seq and Ensembl annotations.
  • Fig. S5. C9ORF72 protein and antibody characterization.
  • Fig. S6. 5′RACE and qRT-PCR analysis of C9ORF72 in human ALS patient spinal cords.
  • Fig. S7. RNA foci quantitation in iPSC-derived motor neuron cultures from individual patients.
  • Fig. S8. Characterization of binding of GGGGCC RNA foci to known hnRNPs and ALS-related factors in C9-ALS motor neuron cultures by confocal imaging.
  • Fig. S9. C9RANT and p62 inclusions were not observed in C9-ALS motor neuron cultures.
  • Fig. S10. Summary of RNA-seq analysis in iPSC-derived motor neurons from C9-ALS patients versus controls.
  • Fig. S11. Hierarchical clustering analysis of RNA-seq data in iPSC-derived motor neurons from C9-ALS patients versus controls.
  • Fig. S12. Electrophysiological properties of control and C9-ALS patient–derived motor neurons separated by individual subject.
  • Fig. S13. Absence of any ASO toxicity in motor neuron cultures and reversal of transcription profiles by RNA-seq in iPSC-derived motor neurons.
  • Table S1. Clinical information on subjects with C9ORF72 hexanucleotide expansions and controls used for iPSC lines in this study.
  • Table S2. Functional pathway analysis of differentially expressed genes in iPSC-derived motor neuron cultures from C9-ALS patients versus controls.

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