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

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

Stem Cell Research (Jul 2020)

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

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

Affiliations

Byron W.H. Mui: Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Deepika Arora: Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Barbara S. Mallon: NIH Stem Cell Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Ariel F. Martinez: Human Development Section, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Janice S. Lee: Dental Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Maximilian Muenke: National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892
Paul Kruszka: National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892
Fahad K. Kidwai: 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.
Pamela G. Robey: 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.

Journal volume & issue: Vol. 46
p. 101823

Abstract

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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 in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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