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

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. Succes...

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Bibliographic Details
Main Authors: Byron W.H. Mui, Deepika Arora, Barbara S. Mallon, Ariel F. Martinez, Janice S. Lee, Maximilian Muenke, Paul Kruszka, Fahad K. Kidwai, Pamela G. Robey
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120301252

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http://www.sciencedirect.com/science/article/pii/S1873506120301252

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