Study: JGAS00000000136




TitleResearch for drug discovery and elucidation of pathophysiology using disease-specific iPS cells
AbstractWe investigated roles of KRAS on stemness maintenance and differentiation propensity in the context of induced pluripotent stem cells (iPSCs) using isogenic KRAS mutant (G13C/WT) and wild-type (WT/WT) iPSCs from the same RAS-associated autoimmune lymphoproliferative syndrome-like disease (RALD) patients. Exome-seq analysis was conducted to compare gene profiles of WT/WT and G13C/WT iPS cells. We have not found any differences of gene mutation in the two genotypes.
Study Type
Study TypeExome Sequencing

Study Attribute

NBDC Numberhum0139
Registration date2018-05-29
Submitting organizationThe University of Tokyo
Principal InvestigatorMakoto Otsu
Molecular Data TypeExome Sequencing
PlatformHiSeq 1500
Accession Title Dataset type Data objects Policy
JGAD00000000205 iPSC from RALD patient Exome sequencing 2 JGAP00000000001