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A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
Sponsor: Qilu Hospital of Shandong University
Summary
This study aims to collect peripheral blood samples from children with Williams syndrome (WS) and healthy children, establish a cell line of induced pluripotent stem cells (iPSCs) derived from the subjects, and further induce and differentiate them into neural progenitor cells (NPCs) and oligodendrocyte lineage cells for in vitro studies on the cellular and molecular mechanisms of WS-related neurodevelopmental abnormalities. Based on previous basic and pre-experimental results, the study focuses on the developmental transition of oligodendrocyte lineage from OPC to pre-OL, immature oligodendrocytes, and mature oligodendrocytes, and specifically evaluates the programs of myelin-related genes, differentiation trajectories, and abnormalities in related pathways such as GTF2I/FZD9, ERK/MAPK, and Wnt/β-catenin. The study design is an independent donor case-control study, and it plans to include 3 children with WS and 3 healthy children. Each sample will be independently sequenced.
Key Details
Gender
All
Age Range
3 Years - 12 Years
Study Type
OBSERVATIONAL
Enrollment
6
Start Date
2026-04-01
Completion Date
2027-01-01
Last Updated
2026-04-17
Healthy Volunteers
Yes
Interventions
one-time peripheral blood collection
In this study, the operation directly involving the subjects was only a one-time peripheral blood collection. The collected biological samples will be used for: * Peripheral blood cell separation * Establishment and characterization of iPSCs * Directed differentiation of NPCs and oligodendrocyte lineages * Immunological, transcriptomic and single-cell transcriptomic analyses