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2016 Fiscal Year Final Research Report

elucidation of a mechanism of developmental disorder caused genome copy number aberration

Research Project

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Project/Area Number 24791090
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University

Principal Investigator

Shimojima Keiko  東京女子医科大学, 医学部, 特任助教 (30578935)

Project Period (FY) 2012-04-01 – 2017-03-31
KeywordsiPS細胞 / 発達障害 / 神経細胞遊走障害 / ニューロン / シナプス
Outline of Final Research Achievements

In this study, we generated disease-specific induced pluripotent stem cells (iPSCs) from patients with developmental disorder whose genetic causes were identified, and we established neuronal differentiation model. We showed that disease-specific iPSCs showed abnormal neurite extension, loss of density of spine number, reduced neuronal action potential.
Furthermore, we newly identified genomic causes of patients with developmental disorder by next generation sequencing.

Free Research Field

小児科

URL: 

Published: 2018-03-22  

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