Induced Pluripotent Stem Cell (Ips Cell), Williams Syndrome
Conditions
Keywords
Williams syndrome, induced pluripotent stem cell (ips cell)
Brief 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.
Interventions
OTHERone-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
Sponsors
Qilu Hospital of Shandong University
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to 12 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs) | Baseline |
Contacts
CONTACTAi Cao
Outcome results
None listed