Tuberous Sclerosis Complex Collection
Tuberous Sclerosis Complex (TSC) is a rare genetic neurodevelopmental disorder characterized by a mutation in one of two different genes, TSC1 or TSC2. Pathological variants in these genes cause growth of benign tumors in various organ systems of the body, leading to axonal guidance defects and developmental delays.
This collection, deposited by Dr. Timothy Gomez at the University of Wisconsin-Madison, consists of iPSCs derived from an affected TSC disease donor, isogenic corrected controls, and genetically engineered counterparts from the patient as well as an iPS(IMR90)-4 control background.
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Cell Line | Cell Line Alias | Cell Type | Disease | Genetic Alteration/Mutation | Sex | Age at Collection | Ethnicity | Genetically Related Cell Lines | dbGaP Data |
|---|---|---|---|---|---|---|---|---|---|
TSC2+/+ | Modified Human iPS | None Reported | 972C/972C | Male | 18 years | No | No | ||
WC-52-01A-TG-1, TSC2+/- | Human iPS | Tuberous Sclerosis Complex | 972C/C972G | Male | 18 years | No | No | ||
TSC2-/- | Modified Human iPS | Tuberous Sclerosis Complex | C972G/C972G | Male | 18 years | No | No | ||
IMR90-TSC2+/- | Modified Human iPS | Tuberous Sclerosis Complex | 972C/C972G | Female | No | No | |||
IMR90-TSC2-/- | Modified Human iPS | Tuberous Sclerosis Complex
| C972G/C972G
| Female | No | No |