{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:36:03Z","timestamp":1764174963886,"version":"3.40.5"},"reference-count":37,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T00:00:00Z","timestamp":1626134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is a lethal, X\u2010linked disorder with no widespread cure. Worldwide, <jats:italic>in\u00a0vitro<\/jats:italic> studies involving new, mutation\u2010specific cures and regenerative therapies are employing disease\u2010specific patient\u2010specific cells. However, these may not be completely relevant for Pakistani children because of the human genome diversities and geographic variation in mutation type and frequency. Therefore, this study aimed to generate DMD induced pluripotent stem cells (iPSCs) from the urine of Pakistani children with DMD, to serve as a precious source of differentiated cells, such as Pakistani DMD\u2010cardiomyocytes, for future disease\u2010modelling, drug testing, and gene therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Urine\u2010derived cells (UDCs) isolated from mid\u2010stream urine underwent molecular characterization and cellular reprogramming towards iPSCs using the episomal vector system followed by molecular profiling of the iPSCs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Colonies of elongated and spindle\u2010shaped or rounded rice\u2010grain like UDCs were spotted 4\u20137\u00a0days after plating and expanded rapidly with a second passage at 2\u20133\u00a0weeks. Multicolor flow cytometry confirmed the expression of mesenchymal stem\u2010cell markers. The reprogramed iPSCs consisted of colonies of round, tightly\u2010packed cells with large nuclei that were positively fluorescent for the pluripotency markers octamer binding transcription factor\u20104 (OCT\u20104), tumour resistance antigen 1\u201360 (TRA\u20101\u201060), and stage specific embryonic 4 antigen (SSEA\u20104), but not for the negative pluripotency marker SSEA\u20101. To the best of our knowledge, this was the first time DMD\u2010iPSCs have been generated for Pakistani children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This integration\u2010free, feeder\u2010free, efficient, and reproducible reprogramming method employed UDCs. Urine is a low\u2010cost, non\u2010invasive, painless, and repeatable source of rapidly expandable cells from children and morbid individuals for obtaining autologous cells for drug\u2010assays and disease\u2010modelling, suitable for DMD and other debilitating diseases.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.14655","type":"journal-article","created":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T06:56:50Z","timestamp":1613631410000},"page":"1038-1047","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Induced pluripotent stem cells from urine of Duchenne muscular dystrophy patients"],"prefix":"10.1111","volume":"63","author":[{"given":"Fareeha Faizan","family":"Ghori","sequence":"first","affiliation":[{"name":"Stem Cells and Regenerative Medicine Research Group Dow Research Institute of Biotechnology and Biomedical Sciences Dow University of Health Sciences Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1939-6565","authenticated-orcid":false,"given":"Mohsin","family":"Wahid","sequence":"additional","affiliation":[{"name":"Stem Cells and Regenerative Medicine Research Group Dow Research Institute of Biotechnology and Biomedical Sciences Dow University of Health Sciences Karachi Pakistan"},{"name":"Department of Pathology Dow International Medical College Dow University of Health Sciences Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2013.0135"},{"key":"e_1_2_7_3_1","first-page":"A81","article-title":"GP126 Large deletions in DMD gene is the most prevalence mutation in russian children with duchenne muscular dystrophy","volume":"104","author":"Savostyanov K","year":"2019","journal-title":"BMJ"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.03.008"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22758"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2008.02538.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"key":"e_1_2_7_8_1","first-page":"S3","article-title":"New generation gene therapies: Preclinical and clinical applications in rare neuromuscular disorders","volume":"13","author":"Din\u00e7er P","year":"2019","journal-title":"Anat. 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