Summary of project PR002180
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR002180. The data can be accessed directly via it's Project DOI: 10.21228/M8TV67 This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR002180 |
| Project DOI: | doi: 10.21228/M8TV67 |
| Project Title: | Metabolomics of Ndufs4 KO human induced pluripotent stem cells (iPSCs) |
| Project Type: | Multi-platform metabolomics analysis |
| Project Summary: | Mitochondrial diseases, often linked to complex I (CI) defects, lack curative treatments. High-throughput drug screening using human-relevant platforms is crucial for identifying new therapeutics. Induced pluripotent stem cell (iPSC) and CRISPR technologies offer a powerful tool for this purpose. While typically differentiated into disease-relevant cell types, recent studies support the use of undifferentiated iPSCs for drug discovery. The aim of this project was to develop and characterize NDUFS4 KO iPSCs in their pluripotent state. The metabolic profile of Ndufs4 KO human induced pluripotent stem cells (iPSCs) were compared to that of isogenic controls using multi-platform metabolomics, consisting of targeted LC-MS/MS, targeted GC-MS/MS, and untargeted GC-TOFMS analyses. Metabolic profiling revealed a distinct phenotype in NDUFS4 KO iPSCs, predominantly associated with an elevated NADH/NAD+ ratio, consistent with alterations observed in other models of mitochondrial dysfunction. These findings underscore the potential of iPSCs for early-stage, high-throughput therapeutic screening in mitochondrial diseases. |
| Institute: | North-West University |
| Last Name: | Louw |
| First Name: | Roan |
| Address: | Hofman Street, Potchefstroom, North-West, 2520, South Africa |
| Email: | Roan.Louw@nwu.ac.za |
| Phone: | +27182994074 |
Summary of all studies in project PR002180
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST003544 | Metabolomics of Ndufs4 KO human induced pluripotent stem cells (iPSCs) | Homo sapiens | North-West University | MS* | 2025-10-06 | 1 | 10 | Uploaded data (1G)* |
