The iPS cell phenogenetic map project “iPhemap” is a comprehensive, continuously updated database that aims to provide a field synopsis and catalog all of the in vitro CNS cell-derived disease phenotypes from induced pluripotent stem cells (iPSCs) derived from patients with neurological diseases. You can search cellular and molecular phenotypes from 93 published reports. We characterized 663 distinct cellular phenotypes and the resulting relationships between genotypes and phenotypes into a phenogenetic map that can be used to build new hypotheses in the field of neurological disease modeling, and to identify potential new opportunities to design novel drug strategies. The project comprises a comprehensive catalog of phenogenetic profiles from patient derived-iPSCs from highly curated, published reports and returns: 1) Cellular phenotypes from iPSCs, neural stem cells, oligodendrocytes, astrocytes, and neurons with genetic mutations linked to neurological diseases. 2) Molecular phenotypes and dysregulated pathways, when available, from gene ontology analyses of gene expression profiles. 3) Spatial and temporal expression patterning of dysregulated genes during development and in the prenatal and adult human brain, when available, from the Allen Brain Atlas and visualized in heatmaps.
Hollingsworth E, Vaughn JE, Orack JC, Skinner C, Khouri J, Lizarraga SB, Hester ME, Watanabe F, Kosik KS, Imitola J.
iPhemap: Phenotype to genotype relationships of human iPSC models of neurological diseases (2017) Submitted
The Imitola Laboratory at The Ohio State University Neurological Institute has developed this resource for identifying phenotype-genotype relationships and cataloging curated phenotypes in patient-derived models of neurological disease.
The current version number is 1.1 - 52017. The most recent update to data was on May 25, 2017.