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March 19, 2024Open Access

Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772GA mutation

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Authors

MRMarta RibeiroInstitute for Biotechnology and BioengineeringJJJoanna JagerHeart Failure / CardiomyopathyMFMarta FurtadoHeart Failure & Transplant

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Overview

Laboratory study demonstrates the generation of induced pluripotent stem cells in a patient carrying an MYBPC3 mutation, highlighting a new platform to explore hypertrophic cardiomyopathy.

Key Points

  • Two induced pluripotent stem cell lines were successfully established from a donor carrying the pathogenic MYBPC3 splicing mutation linked to familial hypertrophic cardiomyopathy.
  • Reprogramming of peripheral blood mononuclear cells from a 64-year-old female generated functional cell lines displaying a normal karyotype and robust trilineage differentiation.
  • These cellular models may enable targeted drug screening for left ventricular hypertrophy, though further preclinical functional validation is needed in differentiated cardiac cells.

Cite This Study

Ribeiro et al. (2024) studied this question.

synapsesocial.com/papers/68e7362ab6db6435876afb7bhttps://doi.org/10.21203/rs.3.rs-4043715/v1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Generation of two induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYBPC3 mutations2026 · 1 citations
  2. 2Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations2024 · 1 citations
  3. 3Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation2024
  4. 4Establishment of an induced pluripotent stem cell line (HMUCPi001-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3 c.3072C > A mutation2025
  5. 5Abstract Thu036: Generation of induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYBPC3 mutations2025