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Article

Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs.

The Journal of clinical investigation - 1 May 2013

Winkler Thomas, Hong So Gun, Decker Jake E, Morgan Mary J, Wu Chuanfeng, Hughes William M, Yang Yanqin, Wangsa Danny, Padilla-Nash Hesed M, Ried Thomas, Young Neal S, Dunbar Cynthia E, Calado Rodrigo T

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23585473
DOI: 10.1172/JCI67146
PMCID: PMC3635755

Genes

TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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