Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Stem Cell Res
; 41: 101623, 2019 12.
Article
em En
| MEDLINE
| ID: mdl-31698194
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Linhagem Celular
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Técnicas de Cultura de Células
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Doenças Autoimunes do Sistema Nervoso
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Fibroblastos
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Helicase IFIH1 Induzida por Interferon
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Mutação
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Malformações do Sistema Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article