Ontology highlight
ABSTRACT:
SUBMITTER: Cherry AB
PROVIDER: S-EPMC3692613 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Cherry Anne B C AB Gagne Katelyn E KE McLoughlin Erin M EM Baccei Anna A Gorman Bryan B Hartung Odelya O Miller Justine D JD Zhang Jin J Zon Rebecca L RL Ince Tan A TA Neufeld Ellis J EJ Lerou Paul H PH Fleming Mark D MD Daley George Q GQ Agarwal Suneet S
Stem cells (Dayton, Ohio) 20130701 7
In congenital mitochondrial DNA (mtDNA) disorders, a mixture of normal and mutated mtDNA (termed heteroplasmy) exists at varying levels in different tissues, which determines the severity and phenotypic expression of disease. Pearson marrow pancreas syndrome (PS) is a congenital bone marrow failure disorder caused by heteroplasmic deletions in mtDNA. The cause of the hematopoietic failure in PS is unknown, and adequate cellular and animal models are lacking. Induced pluripotent stem (iPS) cells ...[more]