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  1. Home
  3. Generation Of A Human Induced Pluripotent Stem Cell Line From A Charge Syndrome Patient With Chd7 Mutation (c.3982c>t).
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  3. Generation Of A Human Induced Pluripotent Stem Cell Line From A Charge Syndrome Patient With Chd7 Mutation (c.3982c>t).

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Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation

Yunqian Zhu1, Peng Zhang2, Meiling Zhang3

  • 1Fujian Key Laboratory of Neonatal Diseases, Children's Hospital of Fudan University (Xiamen Branch), Xiamen Children's Hospital, Xiamen 361006, China; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

Stem Cell Research
|December 4, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Researchers generated a human induced pluripotent stem cell (iPSC) line from a CHARGE syndrome patient with a CHD7 mutation. This CHARGE syndrome iPSC line is crucial for understanding disease mechanisms and drug discovery.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Stem Cell Research

Background:

  • CHARGE syndrome is a complex neurodevelopmental disorder affecting multiple organ systems.
  • The CHD7 gene is identified as the primary genetic cause of CHARGE syndrome.
  • Existing research necessitates patient-specific cellular models for in-depth study.

Purpose of the Study:

  • To establish a human induced pluripotent stem cell (iPSC) line from a patient diagnosed with CHARGE syndrome.
  • To characterize the generated iPSC line for pluripotency and differentiation capabilities.
  • To provide a valuable tool for investigating CHARGE syndrome pathogenesis and facilitating drug screening.

Main Methods:

  • Generation of iPSC line from peripheral blood mononuclear cells of a CHARGE syndrome patient.
  • Culturing and maintenance of iPSC line under standard conditions.
  • Assessment of iPSC line characteristics including morphology, pluripotency markers, karyotype, and differentiation potential into three germ layers.

    • Main Results:

    • A novel human iPSC line was successfully generated, carrying a de novo heterozygous CHD7 mutation (c.3982C>T).
    • The iPSC line demonstrated typical human embryonic stem cell morphology and expressed key pluripotency markers.
    • The iPSC line possessed a normal karyotype and exhibited the capacity for differentiation into ectoderm, mesoderm, and endoderm lineages.

    Conclusions:

    • The established CHARGE syndrome iPSC line serves as a robust cellular model for the disorder.
    • This iPSC line is instrumental for advancing the understanding of CHARGE syndrome's underlying mechanisms.
    • The patient-derived iPSC line offers a platform for preclinical drug screening and therapeutic development for CHARGE syndrome.