Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis
| العنوان: | Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis |
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| المؤلفون: | Shira Aharoni, Paul Renbaum, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges, Yaara Cohen-Hadad, Gheona Altarescu, Sharon Zeligson, Oshrat Schonberger, Talia Eldar-Geva |
| المصدر: | PLoS ONE PLoS ONE, Vol 10, Iss 10, p e0138893 (2015) |
| بيانات النشر: | Public Library of Science, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Mutant, Human Embryonic Stem Cells, Parthenogenesis, lcsh:Medicine, Biology, Spinal Muscular Atrophies of Childhood, Preimplantation genetic diagnosis, medicine.disease_cause, Polymorphism, Single Nucleotide, snRNP Core Proteins, 03 medical and health sciences, Genomic Imprinting, 0302 clinical medicine, medicine, Humans, lcsh:Science, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Multidisciplinary, SnRNP Core Proteins, lcsh:R, Homozygote, Proteins, Embryo, Embryonic stem cell, DNA methylation, embryonic structures, lcsh:Q, RNA, Long Noncoding, Genomic imprinting, 030217 neurology & neurosurgery, Research Article |
| الوصف: | We report on the derivation of a diploid 46(XX) human embryonic stem cell (HESC) line that is homozygous for the common deletion associated with Spinal muscular atrophy type 1 (SMA) from a pathenogenetic embryo. By characterizing the methylation status of three different imprinted loci (MEST, SNRPN and H19), monitoring the expression of two parentally imprinted genes (SNRPN and H19) and carrying out genome-wide SNP analysis, we provide evidence that this cell line was established from the activation of a mutant oocyte by diploidization of the entire genome. Therefore, our SMA parthenogenetic HESC (pHESC) line provides a proof-of-principle for the establishment of diseased HESC lines without the need for gene manipulation. As mutant oocytes are easily obtained and readily available during preimplantation genetic diagnosis (PGD) cycles, this approach should provide a powerful tool for disease modelling and is especially advantageous since it can be used to induce large or complex mutations in HESCs, including gross DNA alterations and chromosomal rearrangements, which are otherwise hard to achieve. |
| اللغة: | English |
| تدمد: | 1932-6203 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f13ade546f34daee2048a0312c33aa4 http://europepmc.org/articles/PMC4608834 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....9f13ade546f34daee2048a0312c33aa4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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