Data

Additional file 2 of Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

The University of Western Australia
Shaw, Nicole C. ; Harrison, Saraya ; Chen, Kevin ; Forbes, Catherine A. ; Kuzminski, Emma ; Hedges, Mitchell ; Farley, Kathryn O. ; Ward, Michelle ; Loughman, Lily ; Poulton, Cathryn ; Baynam, Gareth ; Lassmann, Timo ; Fear, Vanessa S.
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ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rfr_id=info%3Asid%2FANDS&rft_id=info:doi10.6084/m9.figshare.30240448&rft.title=Additional file 2 of Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism&rft.identifier=10.6084/m9.figshare.30240448&rft.publisher=Figshare&rft.description=Supplementary Material 2. Supplementary table 1 Geneticist clinician reported HPO terms for Patient 1. Supplementary table 2 MED12 Patient 1 HPO terms and MED12 related disorders. Supplementary table 3 Differentially expressed genes NPCs compared to iPSCs. Supplementary table 4 GSEA GO-Biological Processes, Neural differentiation of patient-derived iPSCs. Supplementary table 5 Differentially expressed genes in comparison of variant to WT NPCs. Supplementary Table 6. GSEA GO_BP in difference of NPCs. Supplementary Table 7. GSEA GO_CC in difference of NPCs.&rft.creator=Shaw, Nicole C. &rft.creator=Harrison, Saraya &rft.creator=Chen, Kevin &rft.creator=Forbes, Catherine A. &rft.creator=Kuzminski, Emma &rft.creator=Hedges, Mitchell &rft.creator=Farley, Kathryn O. &rft.creator=Ward, Michelle &rft.creator=Loughman, Lily &rft.creator=Poulton, Cathryn &rft.creator=Baynam, Gareth &rft.creator=Lassmann, Timo &rft.creator=Fear, Vanessa S. &rft.date=2025&rft.relation=http://research-repository.uwa.edu.au/en/publications/38e42b40-fb8f-47d6-915a-d5e6b9dc252e&rft.type=dataset&rft.language=English Access the data
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Supplementary Material 2. Supplementary table 1 Geneticist clinician reported HPO terms for Patient 1. Supplementary table 2 MED12 Patient 1 HPO terms and MED12 related disorders. Supplementary table 3 Differentially expressed genes NPCs compared to iPSCs. Supplementary table 4 GSEA GO-Biological Processes, Neural differentiation of patient-derived iPSCs. Supplementary table 5 Differentially expressed genes in comparison of variant to WT NPCs. Supplementary Table 6. GSEA GO_BP in difference of NPCs. Supplementary Table 7. GSEA GO_CC in difference of NPCs.

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External Organisations
Murdoch University; The Kids Research Institute Australia (Telethon Kids Institute); King Edward Memorial Hospital (Australia); University of Western Australia
Associated Persons
Kevin Chen (Creator); Catherine A. Forbes (Creator); Emma Kuzminski (Creator); Mitchell Hedges (Creator); Kathryn O. Farley (Creator)Saraya Harrison (Creator); Michelle Ward (Creator); Lily Loughman (Creator); Cathryn Poulton (Creator)

Issued: 2025-09-30

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