Autor: |
Stefania Masneri, Gaetana Lanzi, Rosalba Monica Ferraro, Chiara Barisani, Giovanna Piovani, Giulia Savio, Marco Cattalini, Jessica Galli, Cristina Cereda, Marco Muzi-Falconi, Simona Orcesi, Elisa Fazzi, Silvia Giliani |
Jazyk: |
angličtina |
Rok vydání: |
2019 |
Předmět: |
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Zdroj: |
Stem Cell Research, Vol 41, Iss , Pp - (2019) |
Druh dokumentu: |
article |
ISSN: |
1873-5061 |
DOI: |
10.1016/j.scr.2019.101623 |
Popis: |
Aicardi-Goutières syndrome (AGS) is an early-onset monogenic encephalopathy characterized by intracranial calcification, leukodystrophy and cerebrospinal fluid lymphocytosis. To date, seven genes have been related to AGS. Among these, IFIH1 encodes for MDA5, a cytosolic double-stranded RNA receptor, and is responsible for AGS type 7. We generated three isogenic iPSC clones, using a Sendai virus-based vector, starting from fibroblasts of a patient carrying a dominant mutation in IFIH1. All lines were characterized for genomic integrity, genetic uniqueness, pluripotency, and differentiation capability. Our clones might offer a good model to investigate AGS7 pathophysiological mechanism and to discover new biomarkers for this condition treatment. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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