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Updated: Nov 17, 2025

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells
09:11

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells

Published on: January 28, 2015

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Induced pluripotent stem cells from urine of Duchenne muscular dystrophy patients

Fareeha Faizan Ghori1, Mohsin Wahid1,2

  • 1Stem Cells and Regenerative Medicine Research Group, Dow Research Institute of Biotechnology and Biomedical Sciences, Dow University of Health Sciences, Karachi, Pakistan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|February 18, 2021
PubMed
Abstract

Insights

Researchers generated Duchenne muscular dystrophy (DMD) induced pluripotent stem cells (iPSCs) from Pakistani children’s urine. This provides a valuable resource for DMD disease modeling and potential gene therapies tailored to local populations.

Area of Science:

  • Biomedical Research
  • Stem Cell Biology
  • Genetics

Background:

  • Duchenne muscular dystrophy (DMD) is a common, lethal X-linked disorder lacking a cure.
  • Existing in vitro studies may not fully represent Pakistani children due to genetic diversity.
  • A need exists for patient-specific cell sources for DMD research in Pakistan.

Purpose of the Study:

  • To generate DMD-induced pluripotent stem cells (iPSCs) from Pakistani children with DMD.
  • To establish a valuable cell source for future disease modeling, drug testing, and gene therapy.
  • To address the specific genetic variations within the Pakistani population.

Main Methods:

  • Urine-derived cells (UDCs) were isolated and characterized.
  • UDCs were reprogrammed into iPSCs using an episomal vector system.
  • Reprogrammed iPSCs underwent molecular profiling for pluripotency markers.

Main Results:

  • Successfully generated DMD-specific iPSCs from Pakistani children's urine.
  • Confirmed pluripotency of generated iPSCs using markers like OCT-4, TRA-1-60, and SSEA-4.
  • This marks the first reported generation of DMD-iPSCs for Pakistani children.

Conclusions:

  • An efficient, integration-free reprogramming method using UDCs was established.
  • Urine offers a non-invasive, repeatable cell source for autologous cell generation.
  • This approach is suitable for DMD and other debilitating diseases, enabling personalized medicine.
Keywords:
Duchenne muscular dystrophyImmunofluorescencecellular reprogrammingmulticolor flow cytometryurine

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