Phenogenetic Database For Stem Cell Models of Neurological Diseases Launched

Thursday, October 19, 2017 | Product Launches and Updates , Research and Publications


Based on the results of a novel meta-analysis of all induced pluripotent stem cells, researchers have created an atlas of how cell characteristic in neurological and neurodegenerative diseases are linked to their genotype. In a study published online in the journal EMBO Molecular Medicine (E-pub October 19), investigators collected data from 93 studies on phenotypes and genotypes, encompassing 31 neurological diseases that span the pediatric to adult population with a total of 71 gene mutations. Analyzing the correlation of 663 neuronal phenotypes with genotypic data from 243 patients and 214 controls, they found that there is no established standard for the reporting of methods nor a defined minimal number of cell lines.

The authors developed a taxonomy of central nervous system cellular phenotypes in vitro from the retrospective analysis of the published literature, which revealed that there are previously unrelated genes that show similar disease phenotypes. The analysis also revealed that alterations in patient-derived cells at the level of gene expression correlate with the reported cellular phenotypes, and these dysregulated genes are highly expressed in specific regions of disease in the brain.

With this information, the authors developed the iPhemap, an online database of phenotypic information of iPSC neurological diseases that can be referenced, updated and continually refined by researchers worldwide. 

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