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Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.
- Source :
-
Stem cell research [Stem Cell Res] 2020 Jul; Vol. 46, pp. 101823. Date of Electronic Publication: 2020 May 19. - Publication Year :
- 2020
-
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.<br />Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest.<br /> (Published by Elsevier B.V.)
Details
- Language :
- English
- ISSN :
- 1876-7753
- Volume :
- 46
- Database :
- MEDLINE
- Journal :
- Stem cell research
- Publication Type :
- Academic Journal
- Accession number :
- 32505898
- Full Text :
- https://doi.org/10.1016/j.scr.2020.101823