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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.
Mui, Byron W H; Arora, Deepika; Mallon, Barbara S; Martinez, Ariel F; Lee, Janice S; Muenke, Maximilian; Kruszka, Paul; Kidwai, Fahad K; Robey, Pamela G.
Afiliación
  • Mui BWH; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
  • Arora D; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
  • Mallon BS; 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.
  • Martinez AF; Human Development Section, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
  • Lee JS; 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.
  • Muenke M; National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892.
  • Kruszka P; National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892.
  • Kidwai FK; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. Electronic address: fahad.kidwai@nih.gov.
  • Robey PG; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. Electronic address: probey@dir.nidcr.nih.gov.
Stem Cell Res ; 46: 101823, 2020 07.
Article en En | MEDLINE | ID: mdl-32505898
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Craneosinostosis / Células Madre Pluripotentes Inducidas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Craneosinostosis / Células Madre Pluripotentes Inducidas Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido