Description:
TUBEROUS SCLEROSIS 1; TSC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Normal skin; seizures; mental retardation; shagreen patches; adenoma sebaceum; same patient as GM02333 |
| 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 |
| |
| Hjelle B, Liu E, Bishop JM, Oncogene v-src transforms and establishes embryonic rodent fibroblasts but not diploid human fibroblasts. Proc Natl Acad Sci U S A85:4355-9 1988 |
| PubMed ID: 3132710 |
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| Hayashi A, Yoshida Y, Tanaka H, Arima M, Ohno K, Variable radiosensitivity in fibroblasts from patients with tuberous sclerosis. J Invest Dermatol84:77-8 1985 |
| PubMed ID: 3965582 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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