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

从患有 FGFR3 p.Pro250Arg 突变的 Muenke 综合征患者中生成人类诱导性多能干细胞系 (NIDCRi001-A)

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作者: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

Abstract

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.

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