A Patient-Derived Resource for Angelman Syndrome Research
Developed in collaboration with Yale University School of Medicine
Overview
The FAST Angelman Syndrome iPSC Collection is a comprehensive set of induced pluripotent stem cell (iPSC) lines derived from individuals with genetically confirmed Angelman Syndrome (AS). This collection was established with the support of the Foundation for Angelman Syndrome Therapeutics (FAST) to provide the research community with renewable, well-characterized human cellular models that reflect the genetic diversity of the disorder.
All iPSC lines were developed at Yale University, using patient-derived fibroblasts reprogrammed under stringent quality standards. The collection includes lines representing the four major molecular classes of AS and typical controls. These lines are critical for modeling disease mechanisms, validating biomarkers, and testing therapeutic strategies
What Are These Cell Lines Used For?
Angelman Syndrome is a severe neurodevelopmental disorder caused by loss of function of the maternal UBE3A gene in neurons. These iPSC lines allow researchers to:
- Study the developmental and molecular consequences of different AS genotypes
- Differentiate patient-derived iPSCs into relevant neuronal subtypes
- Investigate gene regulation, epigenetic imprinting, and UBE3A expression
- Evaluate the efficacy of gene therapies, ASOs, or small molecules in restoring UBE3A function
- Compare different genotypic subtypes in controlled in vitro settings
Genotypic Descriptions
The collection includes the following genetic subtypes of Angelman syndrome:
- Point Mutation: Deleterious mutations within the coding region of the maternal UBE3A gene resulting in loss of protein function.
- Large Maternal Deletion: Deletion of the 15q11.2–q13 region on the maternally inherited chromosome, removing UBE3A and other critical genes; the most common and severe AS genotype.
- Paternal Uniparental Disomy (UPD): Inheritance of both copies of chromosome 15 from the father, resulting in complete absence of maternal UBE3A expression due to imprinting.
- Imprinting Center Defect (ICD): Epigenetic errors at the imprinting control region on chromosome 15 that prevent activation of the maternal UBE3A allele.
- Typical: iPSC lines derived from neurotypical individuals, serving as essential experimental controls.
Each iPSC line has been banked and has undergone extensive quality control testing including mycoplasma screening, karyotyping, and pluripotency assessment.
About FAST
The Foundation for Angelman Syndrome Therapeutics (FAST) is the leading patient advocacy organization working to cure Angelman syndrome (AS). As the largest non-governmental funder of AS research in the world, FAST drives the therapeutic agenda, builds critical infrastructure, and prepares the global community to bring safe and effective treatments into medical practice as quickly as possible.
FAST supports investigator-initiated proposals and strategic collaborations that advance AS science from bench to clinic. See opportunities and guidelines at:
www.cureangelman.org/research
Contact and Support
For questions about access or genotype clarification please contact FAST at
science@cureangelman.org or EBiSC at
Contact@EBiSC.org
