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