Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
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Repository
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No Data
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
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License Required
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No Data
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
R1743Q; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
ARG1743GLN |
| Dooves S, van Velthoven AJH, Suciati LG, Heine VM, Neuron-Glia Interactions in Tuberous Sclerosis Complex Affect the Synaptic Balance in 2D and Organoid Cultures Cells10: 2020 |
| PubMed ID: 33445520 |
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| Warren EC, Dooves S, Lugarà E, Damstra-Oddy J, Schaf J, Heine VM, Walker MC, Williams RSB, Decanoic acid inhibits mTORC1 activity independent of glucose and insulin signaling Proceedings of the National Academy of Sciences of the United States of America10: 2020 |
| PubMed ID: 32879008 |
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| Pal R, Xiong Y, Sardiello M, Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways Proceedings of the National Academy of Sciences of the United States of America116:2977-2986 2019 |
| PubMed ID: 30728291 |
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| Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007 |
| PubMed ID: 17304050 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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