Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation

التفاصيل البيبلوغرافية
العنوان: Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation
المؤلفون: Joaquim M. S. Cabral, Maria Arez, Ana Rita Oliveira, Teresa Silva, Inês Milagre, Maria Carmo-Fonseca, Ana Cláudia Raposo, Carolina A. Pereira, Simão Teixeira da Rocha
المصدر: Stem Cell Research, Vol 53, Iss, Pp 102364-(2021)
بيانات النشر: Elsevier, 2021.
سنة النشر: 2021
مصطلحات موضوعية: 0301 basic medicine, endocrine system diseases, QH301-705.5, Genes, BRCA2, Induced Pluripotent Stem Cells, Breast Neoplasms, 03 medical and health sciences, 0302 clinical medicine, BRCA2 Mutation, medicine, Humans, Genetic Predisposition to Disease, Biology (General), Induced pluripotent stem cell, skin and connective tissue diseases, Founder mutation, Gene, Genetics, BRCA2 Protein, Ovarian Neoplasms, biology, Portugal, Cancer, Cell Biology, General Medicine, biology.organism_classification, medicine.disease, Sendai virus, language.human_language, Founder Effect, female genital diseases and pregnancy complications, 030104 developmental biology, Increased risk, Mutation, language, Female, Portuguese, 030217 neurology & neurosurgery, Developmental Biology
الوصف: Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line from a female donor harboring the Portuguese BRCA2 founder mutation. Skin fibroblasts were reprogrammed using a non-integrative Sendai virus. These iPSCs are a valuable tool to study the origin of BRCA2-associated cancer in its earliest phases.
اللغة: English
تدمد: 1873-5061
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdfad38aaf9db30ed74af69571ac59b7Test
http://www.sciencedirect.com/science/article/pii/S1873506121002105Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....cdfad38aaf9db30ed74af69571ac59b7
قاعدة البيانات: OpenAIRE