Translational research requires robust biological modeling. This directory catalogs the currently known in vivo and in vitro models utilized to study CLTC-ID pathogenesis and screen potential therapeutics.
Due to the fundamental role of clathrin in cellular function, homozygous disruption of the Cltc gene is universally embryonic lethal across vertebrate and invertebrate models. Heterozygous models are the primary vehicle for studying haploinsufficiency.
Patient-derived cell lines provide the most accurate molecular reflection of specific human missense and truncating variants, avoiding the limitations of inter-species ortholog discrepancies.
Patient-derived iPSCs reprogrammed into cortical neurons represent the gold standard for studying the neurodevelopmental and synaptic impacts of CLTC variants.
Availability Status
Availability of patient-specific iPSC lines is currently limited and predominantly managed through private academic collaborations or specific biobanks (e.g., Coriell Institute, SFARI). Researchers seeking specific variant lines are encouraged to contact the registry team to explore patient-family consent for new sample derivations.
Authoritative databases and repositories for model organism genetics, cell line sourcing, and gene-level annotation relevant to CLTC research.
Mouse Genome Informatics record for the murine Cltc gene, including expression data, phenotype annotations, and references to knockout and heterozygous alleles.
FlyBase gene record for the Drosophila clathrin heavy chain, covering temperature-sensitive alleles, mutant phenotypes, and synaptic studies at the neuromuscular junction.
WormBase entry for the C. elegans clathrin heavy chain ortholog, including RNAi phenotype data and expression patterns.
A not-for-profit biobank that stores and distributes patient-derived cell lines, including iPSC repositories. One of the primary sources for variant-specific CLTC iPSC lines.
SFARI Gene database record for CLTC, listing associated human genetic studies and scoring the gene for relevance to autism spectrum disorder.
The Simons Foundation funds and coordinates CLTC-related iPSC line derivation and sharing programmes through its research initiatives.