A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls

A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls

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.

Inclusion Criteria:

1. The clinical diagnosis is Williams syndrome.
2. Child subjects;
3. The guardian signs the informed consent form. If necessary, the subject himself/herself signs the informed consent or the informed consent with additional consent.
4. Be capable of completing peripheral blood collection;

Exclusion Criteria:

1. Cases of severe infection, severe hematological diseases or other conditions that make blood collection inappropriate;
2. Recent receipt of special treatments that may significantly affect the state of peripheral blood cells;
3. Insufficient sample volume or poor sample quality that does not meet the requirements for reprogramming experiments;
4. Guardians' refusal to allow the samples to be used for iPSC establishment and subsequent research;
5. Other circumstances judged by the researchers as not suitable for inclusion in this study.