Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
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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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| PDL at Freeze |
4.64 |
| Passage Frozen |
4 |
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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 |
H522T; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
HIS522THR |
| Remarks |
Same subject as GM03933 (lymphocyte) and GM28955 (iPSC); clinically affected; adenoma sebaceum; ungual fibromas; shagreen patches; seizures; mental retardation; intracerebral calcifications; donor subject has a deletion at nucleotide 1564 in exon 14 of the TSC2 gene [1564delC] resulting in a substitution of threonine for histidine at codon 522 [His522Thr (H522T)] and protein truncation at codon 534; polymorphisms in TSC1 include 965T>C and 1335A>G; polymorphisms in TSC2 include 3889G>A. |
| 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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| G Nadadhur A, Alsaqati M, Gasparotto L, Cornelissen-Steijger P, van Hugte E, Dooves S, Harwood AJ, Heine VM, Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models Stem Cell Reports116:2977-2986 2018 |
| PubMed ID: 30581017 |
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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 |
4 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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