Evidence map›Paper›PMID 26473610›Full record

ArticlePloS one2015

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.

Silvina Epsztejn-Litman, Yaara Cohen-Hadad, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Ephrat Levy-Lahad, Oshrat Schonberger, Talia Eldar-Geva, Sharon Zeligson, Rachel Eiges

Abstract read
In one paragraph

Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Silvina Epsztejn-LitmanStem Cell Research Laboratory, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Yaara Cohen-HadadStem Cell Research Laboratory, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Shira AharoniStem Cell Research Laboratory, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Gheona AltarescuZohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Paul RenbaumZohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Ephrat Levy-LahadZohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Oshrat SchonbergerIVF Unit, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Talia Eldar-GevaIVF Unit, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Sharon ZeligsonZohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
Rachel EigesStem Cell Research Laboratory, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Genomic ImprintingHomozygoteHuman Embryonic Stem CellsMutationParthenogenesisSpinal Muscular Atrophies of ChildhoodHumansPolymorphism, Single NucleotideProteinsRNA, Long NoncodingsnRNP Core ProteinsH19 long non-coding RNAmesoderm specific transcript proteinProteinsRNA, Long NoncodingsnRNP Core ProteinsSNRPN protein, human

Identifiers

PMID26473610
PMCPMC4608834

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.