Establishment of Gene and Cell Therapy for Epidermolysis Bullosa using iPSC technology

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09789
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Jikei University School of Medicine
• Principal Investigator: Itoh Munenari 東京慈恵会医科大学, 医学部, 講師 (20408371)
• Research Collaborator: KAWAGOE Shiho
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 人工多能性幹細胞 / 先天性表皮水疱症 / 遺伝子治療 / 細胞治療

Outline of Final Research Achievements

In our study, we attempted to establish gene and cell therapy for recessive dystrophic epidermolysis bullosa (RDEB) using induced pluripotent stem cell (iPSC) technology. RDEB is an inherited skin disorder caused by the mutation in the type VII collagen gene, an important component for skin integrity between epidermis and dermis, resulting in skin fragility. Therefore, RDEB is characterized by repeated and incurable skin blisters with minor trauma. We first generated iPSC from T cells isolated from the patient with RDEB using Sendai virus vector to avoid viral gene insertion. We next tried to correct pathogenic gene mutation in RDEB-derived iPSCs using homologous recombination-based CRISPR/CAS9 system. In this trial, we modified template DNA plasmid by installing drug-resistance gene flanked by transposon inverted repeat sequence to completely remove drug-resistance gene after gene correction, and confirmed whether our system worked well or not.

Free Research Field

幹細胞、遺伝性疾患