Characterization of human iPS Cells with Genetic Abnormality of Nerve Adhesion Molecule L1CAM

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591538
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Hospital Organization Osaka National Hospital Institute for Clinical Reserch
• Principal Investigator: SHOFUDA Tomoko 独立行政法人国立病院機構大阪医療センター(臨床研究センター), 先進医療研究開発部 幹細胞医療研究室, 室長 (40450895)
• Co-Investigator(Kenkyū-buntansha): KANEMURA Yonehiro 独立行政法人国立病院機構大阪医療センター(臨床研究センター), 先進医療研究開発部 再生医療研究室, 室長 (80344175)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 神経接着因子L1CAM / 疾患iPS細胞 / 神経前駆細胞

Outline of Final Research Achievements

Genetic abnormality　of nerve adhesion molecule L1CAM causes one of the congenital hereditary nerve intractable disease L1 syndrome. In this study, to reveal molecular mechanism of neurological dysfunction due to L1CAM abnormality, we established iPS cells from patient-derived fibroblast cells. L1CAM abnormal iPS cells maintain pluripotency, and successfully differentiate into neural progenitor cells (iPS-NPCs). The biological characterization revealed L1CAM abnormal iPS-NPCs were decreased in terminal differentiation potential, and emerging neurons and glial cells have vulnerably low adhesion ability to matrices. Also it was found that cell migration ability was also reduced. Using the iPS cell technology, we succeeded in obtaining the materials to elucidate dysfunction mechanisms of the nervous system cells due to L1CAM abnormality.

Free Research Field

幹細胞学