Critically short telomeres activate p53-mediated apoptosis, resulting in organ failure and leading to malignant transformation. Mutations in genes responsible for telomere maintenance are linked to a number of human diseases. We derived induced pluripotent stem cells (iPSCs) from 4 patients with aplastic anemia or hypocellular bone marrow carrying heterozygous mutations in the telomerase reverse transcriptase (
Thomas Winkler, So Gun Hong, Jake E. Decker, Mary J. Morgan, Chuanfeng Wu, William M. Hughes V, Yanqin Yang, Danny Wangsa, Hesed M. Padilla-Nash, Thomas Ried, Neal S. Young, Cynthia E. Dunbar, Rodrigo T. Calado
Telomerase activity and ALT.