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Article

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.

Stem cell research - 1 Jul 2020

Mui Byron W H, Arora Deepika, Mallon Barbara S, Martinez Ariel F, Lee Janice S, Muenke Maximilian, Kruszka Paul, Kidwai Fahad K, Robey Pamela G

Abstract excerpt

Muenke syndrome is the leading genetic cause of craniosynostosis and results in a variety of disabling clinical phenotypes. To model the disease and study the pathogenic mechanisms, a human induced pluripotent stem cell (hiPSC) line was generated from a patient diagnosed with Muenke syndrome. Successful reprogramming was validated by morphological features, karyotyping, loss of reprogramming factors, expression...

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Identifiers

PMID: 32505898
DOI: 10.1016/j.scr.2020.101823
PMCID: PMC8447220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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