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Article

Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling.

The Journal of clinical investigation - 1 Sept 2013

Hirata Shinji, Takayama Naoya, Jono-Ohnishi Ryoko, Endo Hiroshi, Nakamura Sou, Dohda Takeaki, Nishi Masanori, Hamazaki Yuhei, Ishii Ei-ichi, Kaneko Shin, Otsu Makoto, Nakauchi Hiromitsu, Kunishima Shinji, Eto Koji

Abstract excerpt

Congenital amegakaryocytic thrombocytopenia (CAMT) is caused by the loss of thrombopoietin receptor-mediated (MPL-mediated) signaling, which causes severe pancytopenia leading to bone marrow failure with onset of thrombocytopenia and anemia prior to leukopenia. Because Mpl(-/-) mice do not exhibit the human disease phenotype, we used an in vitro disease tracing system with induced pluripotent stem cells (iPSCs)...

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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: 23908116
DOI: 10.1172/JCI64721
PMCID: PMC3754238

Genes

MPL
FLI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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