Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4608834?pdf=render |
| _version_ | 1818036608951123968 |
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| author | Silvina Epsztejn-Litman Yaara Cohen-Hadad Shira Aharoni Gheona Altarescu Paul Renbaum Ephrat Levy-Lahad Oshrat Schonberger Talia Eldar-Geva Sharon Zeligson Rachel Eiges |
| author_facet | Silvina Epsztejn-Litman Yaara Cohen-Hadad Shira Aharoni Gheona Altarescu Paul Renbaum Ephrat Levy-Lahad Oshrat Schonberger Talia Eldar-Geva Sharon Zeligson Rachel Eiges |
| author_sort | Silvina Epsztejn-Litman |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T07:13:40Z |
| format | Article |
| id | doaj.art-bb761332d1524f5ea4556bdea104c1ed |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-10T07:13:40Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-bb761332d1524f5ea4556bdea104c1ed2022-12-22T01:58:00ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-011010e013889310.1371/journal.pone.0138893Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.Silvina Epsztejn-LitmanYaara Cohen-HadadShira AharoniGheona AltarescuPaul RenbaumEphrat Levy-LahadOshrat SchonbergerTalia Eldar-GevaSharon ZeligsonRachel EigesWe 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.http://europepmc.org/articles/PMC4608834?pdf=render |
| spellingShingle | Silvina Epsztejn-Litman Yaara Cohen-Hadad Shira Aharoni Gheona Altarescu Paul Renbaum Ephrat Levy-Lahad Oshrat Schonberger Talia Eldar-Geva Sharon Zeligson Rachel Eiges Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. PLoS ONE |
| title | Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. |
| title_full | Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. |
| title_fullStr | Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. |
| title_full_unstemmed | Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. |
| title_short | Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. |
| title_sort | establishment of homozygote mutant human embryonic stem cells by parthenogenesis |
| url | http://europepmc.org/articles/PMC4608834?pdf=render |
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