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

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