Generation of genetically modified human induced pluripotent stem cell lines harboring haploin sufficient or dominant negative variants in the FBN1 gene
| العنوان: | Generation of genetically modified human induced pluripotent stem cell lines harboring haploin sufficient or dominant negative variants in the FBN1 gene |
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| المؤلفون: | Mara Pinheiro, Lygia da Veiga Pereira, Mariana Morato-Marques, Raquel Delgado Sarafian, Luis Ernesto Farinha-Arcieri, Juliana Borsoi |
| المصدر: | Stem Cell Research, Vol 54, Iss, Pp 102434-(2021) Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| بيانات النشر: | Elsevier, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, musculoskeletal diseases, Cell type, congenital, hereditary, and neonatal diseases and abnormalities, QH301-705.5, Fibrillin-1, Cellular differentiation, Induced Pluripotent Stem Cells, Biology, medicine.disease_cause, Marfan Syndrome, 03 medical and health sciences, 0302 clinical medicine, Genome editing, medicine, Humans, CRISPR, Biology (General), Induced pluripotent stem cell, Gene, Genetics, Mutation, MUTAÇÃO GENÉTICA, Cell Differentiation, Cell Biology, General Medicine, Genetically modified organism, 030104 developmental biology, 030217 neurology & neurosurgery, Developmental Biology |
| الوصف: | Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. To investigate the molecular mechanisms of pathogenesis for the syndrome, we genetically modified the FBN1 gene in a line of induced pluripotent stem cells (hiPSCs) derived from a healthy donor using the CRISPR/Cas9 gene editing technology. The sublines described here were characterized according to established criteria and were shown to maintain pluripotency, three germ layer differentiation potential and genomic integrity. These clones can now be used to better understand the pathogenesis of MFS in different cell types. |
| اللغة: | English |
| تدمد: | 1873-5061 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e010b015481821f7b701bffc7c544e http://www.sciencedirect.com/science/article/pii/S1873506121002816 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a6e010b015481821f7b701bffc7c544e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18735061 |
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