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An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene

Wen-Wen Jia1, Ji-Zhen Lu1, Lu Zhang1

  • 1Institute for Regenerative Medicine, National Stem Cell Translational Resource Center, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.

Stem Cell Research
|June 5, 2021
PubMed

Insights

Researchers created a stem cell model from a neonate with hypertrophic cardiomyopathy (HCM). This induced pluripotent stem cell line (EHTJUi003-A) aids in studying HCM

Area of Science:

  • Cardiovascular Medicine
  • Stem Cell Biology
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary genetic heart disorder.
  • It is inherited in an autosomal dominant pattern.
  • MYBPC3 gene mutations are a common cause of HCM.

Purpose of the Study:

  • To generate a novel induced pluripotent stem cell (iPSC) line from a patient with HCM.
  • To establish an in vitro model for studying the disease's pathological mechanisms.
  • To investigate the role of the MYBPC3 mutation in HCM development.

Main Methods:

  • Isolation of umbilical cord blood mononuclear cells (UCBMCs) from a neonate.
  • Reprogramming of UCBMCs into induced pluripotent stem cells (iPSCs).
  • Characterization of the generated iPSC line (EHTJUi003-A) for pluripotency and genetic integrity.

Main Results:

  • Successfully generated a unique iPSC line (EHTJUi003-A) from a female neonate with HCM.
  • The iPSC line carries a heterozygous p.L460Wfs (c.1377delC) mutation in the MYBPC3 gene.
  • This model accurately reflects the genetic basis of HCM in the patient.

Conclusions:

  • The EHTJUi003-A iPSC line is a valuable resource for in vitro research on HCM.
  • This model facilitates the study of disease mechanisms at the cellular level.
  • It provides a platform for potential therapeutic target identification in HCM.

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