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


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 of pluripotency markers, mutation analysis and teratoma formation. Published by Elsevier B.V.

Authors Mui BWH, Arora D, Mallon BS, Martinez AF, Lee JS, Muenke M, Kruszka P, Kidwai FK, Robey PG
Journal Stem cell research
Publication Date 2020 Jul;46:101823
PubMed 32505898
PubMed Central PMC8447220
DOI 10.1016/j.scr.2020.101823

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