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Updated: Nov 18, 2025

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Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB

Jingyun Guan1, Guangyan Tian2, Rui Dong1

  • 1Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

Stem Cell Research
|February 7, 2021
PubMed

Insights

Mucopolysaccharidosis type IIIB (MPS IIIB) is a genetic disorder causing cognitive and motor decline. Researchers created a patient-derived stem cell line to study MPS IIIB disease mechanisms.

Area of Science:

  • Biochemistry
  • Genetics
  • Stem Cell Biology

Background:

  • Mucopolysaccharidosis type IIIB (MPS IIIB) is an inherited metabolic disorder.
  • It results from mutations in the NAGLU gene, leading to severe neurological impairment.
  • Characterized by cognitive decline, behavioral issues, and motor retardation.

Purpose of the Study:

  • To generate a human induced pluripotent stem cell (hiPSC) line from an MPS IIIB patient.
  • To establish a valuable cellular model for investigating MPS IIIB pathogenesis.

Main Methods:

  • Generated hiPSC line SDQLCHi041-A from peripheral blood mononuclear cells.
  • Patient diagnosed with MPS IIIB and carried compound heterozygous mutations (c.1336G>A and c.608G>A) in the NAGLU gene.

Main Results:

  • Successfully generated the SDQLCHi041-A hiPSC line.
  • This cell line accurately reflects the genetic makeup of the MPS IIIB patient.

Conclusions:

  • The SDQLCHi041-A hiPSC line serves as a crucial tool for MPS IIIB research.
  • Facilitates deeper understanding of the molecular mechanisms underlying MPS IIIB.

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