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Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation.
Kim, Bo-Young; Ko, Jung Min; Park, Mi-Hyun; Koo, Soo Kyung.
Afiliación
  • Kim BY; Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea.
  • Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Park MH; Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea. Electronic address: mihyun4868@korea.kr.
  • Koo SK; Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea. Electronic address: skkoo@korea.kr.
Stem Cell Res ; 41: 101622, 2019 12.
Article en En | MEDLINE | ID: mdl-31715426
Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones. OI type I is the most common and usually the mildest form. We generated human induced pluripotent stem cells (hiPSCs), KSCBi006-A, from the peripheral blood mononuclear cells of a patient with OI type I using the Sendai virus delivery method. The generated hiPSCs retained the disease-causing DNA mutation (COL1A1, c.3162delT) and showed a normal karyotype. KSCBi006-A also has pluripotency and the capacity for differentiation into the three germ layers. These patient-specific iPSCs provide a valuable cellular modeling platform for OI and a resource for drug screening.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Línea Celular / Técnicas de Cultivo de Célula / Colágeno Tipo I / Células Madre Pluripotentes Inducidas / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2019 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Línea Celular / Técnicas de Cultivo de Célula / Colágeno Tipo I / Células Madre Pluripotentes Inducidas / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2019 Tipo del documento: Article Pais de publicación: Reino Unido