{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:26:33Z","timestamp":1791217593032,"version":"4.1.0"},"reference-count":29,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T00:00:00Z","timestamp":1447718400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Stem Cells and Development"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>\n                    Andersen's syndrome (AS) is a rare disorder characterized by a triad of symptoms: periodic paralysis, cardiac arrhythmia, and bone developmental defects. Most of the patients carry mutations on the inward rectifier potassium channel Kir2.1 encoded by the\n                    <jats:italic toggle=\"yes\">KCNJ2<\/jats:italic>\n                    gene.\n                    <jats:italic toggle=\"yes\">kcnj2<\/jats:italic>\n                    knockout mice are lethal at birth preventing, hence, thorough investigations of the physiological and pathophysiological events. We have generated induced pluripotent stem (iPS) cells from healthy as well as from AS patient muscular biopsies using the four-gene cassette required for cellular reprogramming (\n                    <jats:italic toggle=\"yes\">Oct4<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">Sox2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">Klf4<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">c-Myc<\/jats:italic>\n                    ). The generated AS-iPS cells exhibited the gold standard requirement for iPS cells: expression of genetics and surface pluripotent markers, strong alkaline phosphatase activity, self-renewal, and could be differentiated by the formation of embryoid bodies (EBs) into the three germ layers. Sequencing of the entire coding sequence of the\n                    <jats:italic toggle=\"yes\">KCNJ2<\/jats:italic>\n                    gene, in AS-iPS cells, revealed that the reprogramming process did not revert the Andersen's syndrome-associated mutation. Moreover, no difference was observed between control and AS-iPS cells in terms of pluripotent markers' expression, self-renewal, and three germ layer differentiation. Interestingly, expression of osteogenic markers are lower in EB-differentiated AS-iPS compared to control iPS cells. Our results showed that the Kir2.1 channel is not important for the reprogramming process and the early step of the development in vitro. However, the osteogenic machinery appears to be hastened in AS-iPS cells, strongly indicating that the generated AS-iPS cells could be a good model to better understand the AS pathophysiology.\n                  <\/jats:p>","DOI":"10.1089\/scd.2015.0258","type":"journal-article","created":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T03:29:27Z","timestamp":1447730967000},"page":"151-159","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":12,"title":["Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells"],"prefix":"10.1177","volume":"25","author":[{"given":"Jonathan","family":"Pini","sequence":"first","affiliation":[{"name":"University Nice Sophia Antipolis","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Rouleau","sequence":"additional","affiliation":[{"name":"University Nice Sophia Antipolis","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Desnuelle","sequence":"additional","affiliation":[{"name":"Institute for Research on Cancer and Aging of Nice (IRCAN)","place":["France"]},{"name":"Institute for Research on Cancer and Aging of Nice (IRCAN)","place":["France"]},{"name":"University of Nice-Sophia-Antipolis","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"Institute for Research on Cancer and Aging of Nice (IRCAN)","place":["France"]},{"name":"Institute for Research on Cancer and Aging of Nice (IRCAN)","place":["France"]},{"name":"University of Nice-Sophia-Antipolis","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sa\u00efd","family":"Bendahhou","sequence":"additional","affiliation":[{"name":"University Nice Sophia Antipolis","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2015,11,17]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1971.tb06990.x"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000239"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M310278200"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00519.2008"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.078592"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.07.024"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.11.019"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/stem.255"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm034"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu462"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3858\/emm.2012.44.3.015"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.02.013"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0026406"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2012.0157"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/stem.598"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2010.07.017"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/738910"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2239"},{"key":"e_1_3_3_22_2","first-page":"235","article-title":"A comparative study of osteogenic differentiation human induced pluripotent stem cells and adipose tissue derived mesenchymal stem cells","volume":"16","author":"Ardeshirylajimi A","year":"2014","unstructured":"Ardeshirylajimi A, , Soleimani M, , Hosseinkhani S, , Parivar K, and Yaghmaei P. 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