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  1. Home
  3. Generation Of An Isogenic Human Induced Pluripotent Stem Cell Line With A Mutant Propionyl-coa Carboxylase Α Subunit.
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  3. Generation Of An Isogenic Human Induced Pluripotent Stem Cell Line With A Mutant Propionyl-coa Carboxylase Α Subunit.

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Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit.

Tianqi Tao1, Liwen Lin2, Yanyan Tang1

  • 1Department of Geriatrics, the Second Medical Center and National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China.

Orphanet Journal of Rare Diseases
|January 24, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

Researchers developed a new human stem cell model for propionic acidemia (PA), a metabolic disorder. This model accurately mimics PA

Keywords:
CRISPR/cas9Induced pluripotent stem cells (iPSCs)Propionic acidemia (PA)Propionyl-CoA carboxylase (PCC)

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Area of Science:

  • Biochemistry
  • Genetics
  • Stem Cell Biology

Background:

  • Propionic acidemia (PA) is a rare metabolic disorder due to propionyl-CoA carboxylase (PCC) deficiency.
  • Genetic mutations in PCCA or PCCB genes impair PCC function, causing toxic metabolite buildup.
  • Existing research is hindered by a lack of suitable patient-derived cellular models.

Purpose of the Study:

  • To create an isogenic human induced pluripotent stem cell (iPSC) model for PA.
  • To investigate PA's molecular mechanisms and genotype-phenotype correlations.
  • To establish a platform for drug screening and therapeutic development in PA.

Main Methods:

  • CRISPR/Cas9 gene editing was used to introduce a PCCA mutation into human iPSCs.
  • The generated mutant iPSCs underwent directed cardiac differentiation into cardiomyocytes (iPSC-CMs).
  • Metabolomics and video-based motion analysis were employed to assess metabolic profiles and contractile function.

    • Main Results:

    • The engineered iPSCs maintained pluripotency and differentiation capacity, accurately modeling PA.
    • Mutant iPSC-CMs displayed elevated propionylcarnitine levels and impaired contractile function upon propionate challenge.
    • Wild-type iPSC-CMs showed enhanced contraction under similar conditions, confirming the model's validity.

    Conclusions:

    • An isogenic iPSC line provides an ethical and effective model for studying PA.
    • This model overcomes limitations of patient sample acquisition for research.
    • It facilitates the investigation of PA pathogenesis and the development of novel therapies.