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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Series: | Stem Cell Research |
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doaj-8027fc1f67a0477cb6daae5cb212c9b12020-11-25T03:07:30ZengElsevierStem Cell Research1873-50612020-07-0146101823Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutationByron W.H. Mui0Deepika Arora1Barbara S. Mallon2Ariel F. Martinez3Janice S. Lee4Maximilian Muenke5Paul Kruszka6Fahad K. Kidwai7Pamela G. Robey8Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USASkeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USANIH Stem Cell Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USAHuman Development Section, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USADental Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USANational Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA; Corresponding authors.Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506120301252 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation Stem Cell Research |
author_facet |
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 |
author_sort |
Byron W.H. Mui |
title |
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation |
title_short |
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation |
title_full |
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation |
title_fullStr |
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation |
title_full_unstemmed |
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation |
title_sort |
generation of human induced pluripotent stem cell line (nidcri001-a) from a muenke syndrome patient with an fgfr3 p.pro250arg mutation |
publisher |
Elsevier |
series |
Stem Cell Research |
issn |
1873-5061 |
publishDate |
2020-07-01 |
description |
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. |
url |
http://www.sciencedirect.com/science/article/pii/S1873506120301252 |
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