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Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

María Del Carmen Ortuño-Costela1, Nathalie Rodríguez-Mancera2, Marta García-López2

  • 1Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols", (UAM-CSIC) Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain.

Stem Cell Research
|September 20, 2017
PubMed

Insights

A new human induced pluripotent stem cell (iPSC) line was created from a patient with McArdle disease. This iPSC line carries a specific mutation in the PYGM gene, crucial for understanding the disease.

Area of Science:

  • Stem cell biology
  • Genetics
  • Molecular medicine

Background:

  • McArdle disease is a genetic disorder affecting glycogen metabolism.
  • Patient-derived cells are valuable for disease modeling.
  • Induced pluripotent stem cells (iPSCs) offer a renewable source of patient-specific cells.

Purpose of the Study:

  • To generate a novel human induced pluripotent stem cell (iPSC) line from a patient with McArdle disease.
  • To create a cellular model for studying the molecular mechanisms of McArdle disease.
  • To facilitate research into potential therapeutic strategies for McArdle disease.

Main Methods:

  • Fibroblasts were obtained from a patient diagnosed with McArdle disease.
  • The patient's fibroblasts carried the specific c.148C>T; p.Arg50Ter mutation in the PYGM gene.
  • Reprogramming was achieved using Sendai virus to deliver Oct3/4, Sox2, Klf4, and c-Myc transcription factors.

Main Results:

  • A stable human iPSC line, designated IISHDOi001-A, was successfully generated.
  • The generated iPSC line retained the characteristic PYGM gene mutation associated with McArdle disease.
  • The iPSCs exhibited typical pluripotent stem cell morphology and markers (data not shown in abstract).

Conclusions:

  • The IISHDOi001-A iPSC line represents a valuable new resource for McArdle disease research.
  • This cell line will enable in vitro studies of disease pathogenesis and drug screening.
  • Further characterization of the iPSC line is warranted to fully explore its potential.

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