PittsburghV1, Main, Exploration, bibRecord, 000040

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

Identifieur interne : 000040 ( Main/Exploration ); précédent : 000039; suivant : 000041

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

Auteurs : Angélique Terray [France] ; Amélie Slembrouck [France] ; Céline Nanteau [France] ; Christel Chondroyer [France] ; Christina Zeitz [France] ; José-Alain Sahel [France] ; Isabelle Audo [France] ; Sacha Reichman [France] ; Olivier Goureau [France]

Source :

Stem cell research [ 1876-7753 ] ; 2017.

RBID : Hal:hal-01628496

Abstract

A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP.

Url:

http://hal.upmc.fr/hal-01628496

DOI: 10.1016/j.scr.2017.08.003

Affiliations:

France

Links toward previous steps (curation, corpus...)

to stream Hal, to step Corpus: 000302
to stream Hal, to step Curation: 000302
to stream Hal, to step Checkpoint: 000043
to stream Main, to step Merge: 000038
to stream Main, to step Curation: 000040

Le document en format XML

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          <desc>            <address>              <addrLine>17 Rue Moreau, 75012 Paris</addrLine>
              <country key="FR"></country>
            </address>
            <ref type="url">http://www.institut-vision.org/fr/</ref>
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          </listRelation>
        <tutelles><tutelle name="UM80" active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID">          <orgName>Université Pierre et Marie Curie - Paris 6</orgName>
          <orgName type="acronym">UPMC</orgName>
          <desc>            <address>              <addrLine>4 place Jussieu - 75005 Paris</addrLine>
              <country key="FR"></country>
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            <ref type="url">http://www.upmc.fr/</ref>
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<tutelle name="U968" active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID">          <idno type="IdRef">026388278</idno>
          <orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
          <orgName type="acronym">INSERM</orgName>
          <desc>            <address>              <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
              <country key="FR"></country>
            </address>
            <ref type="url">http://www.inserm.fr</ref>
          </desc>
        </org>
</tutelle>
<tutelle name="UMR7210" active="#struct-441569" type="direct"><org type="institution" xml:id="struct-441569" status="VALID">          <idno type="IdRef">02636817X</idno>
          <idno type="ISNI">0000000122597504</idno>
          <orgName>Centre National de la Recherche Scientifique</orgName>
          <orgName type="acronym">CNRS</orgName>
          <date type="start">1939-10-19</date>
          <desc>            <address>              <country key="FR"></country>
            </address>
            <ref type="url">http://www.cnrs.fr/</ref>
          </desc>
        </org>
</tutelle>
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<country>France</country>
</affiliation>
</author>
</analytic>
<idno type="DOI">10.1016/j.scr.2017.08.003</idno>
<series><title level="j">Stem cell research</title>
<idno type="ISSN">1876-7753</idno>
<imprint><date type="datePub">2017</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en">A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
</list>
<tree><country name="France"><noRegion><name sortKey="Terray, Angelique" sort="Terray, Angelique" uniqKey="Terray A" first="Angélique" last="Terray">Angélique Terray</name>
</noRegion>
<name sortKey="Audo, Isabelle" sort="Audo, Isabelle" uniqKey="Audo I" first="Isabelle" last="Audo">Isabelle Audo</name>
<name sortKey="Chondroyer, Christel" sort="Chondroyer, Christel" uniqKey="Chondroyer C" first="Christel" last="Chondroyer">Christel Chondroyer</name>
<name sortKey="Goureau, Olivier" sort="Goureau, Olivier" uniqKey="Goureau O" first="Olivier" last="Goureau">Olivier Goureau</name>
<name sortKey="Nanteau, Celine" sort="Nanteau, Celine" uniqKey="Nanteau C" first="Céline" last="Nanteau">Céline Nanteau</name>
<name sortKey="Reichman, Sacha" sort="Reichman, Sacha" uniqKey="Reichman S" first="Sacha" last="Reichman">Sacha Reichman</name>
<name sortKey="Sahel, Jose Alain" sort="Sahel, Jose Alain" uniqKey="Sahel J" first="José-Alain" last="Sahel">José-Alain Sahel</name>
<name sortKey="Slembrouck, Amelie" sort="Slembrouck, Amelie" uniqKey="Slembrouck A" first="Amélie" last="Slembrouck">Amélie Slembrouck</name>
<name sortKey="Zeitz, Christina" sort="Zeitz, Christina" uniqKey="Zeitz C" first="Christina" last="Zeitz">Christina Zeitz</name>
</country>
</tree>
</affiliations>
</record>

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Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

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