Description:
TUBEROUS SCLEROSIS 1; TSC1
TSC1 GENE; TSC1
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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 |
4.6 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
TSC1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 1 |
W750X; TUBEROUS SCLEROSIS, TYPE I |
| Identified Mutation |
TRP750TER |
| Remarks |
Same subject as GM06146 (lymphocyte) and GM28959 (iPSC); clinically affected; seizures; hypopigmented macules on right shoulder, right thigh, left chest, right knee, lower back and right upper arm; café-au-lait spot on right wrist; confetti hypopigmentation over back and legs; myopia; at age 17 there were no shagreen patches, ungual fibromas or adenoma sebaceum; calcifications in brain; donor subject is heterozygous for G>A transition at nucleotide 2249 in exon 18 of the TSC1 gene [2249G>A] resulting in a substitution of a termination signal for tryptophan at codon 750 [Trp750Ter (W750X)]; polymorphisms in the TSC1 gene include 2829C>T; polymorphisms in the TSC2 gene include 479-3C>T, 5161-10A>C, 5202T>C, 5259+72C>T; affected father is GM06148 (Fibroblast) and affected brother is GM06150 (Fibroblast). |
| 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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| 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 Reports10: 2018 |
| PubMed ID: 30581017 |
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| Norambuena A, Wallrabe H, Cao R, Wang DB, Silva A, Svindrych Z, Periasamy A, Hu S, Tanzi RE, Kim DY, Bloom GS, A novel lysosome-to-mitochondria signaling pathway disrupted by amyloid-ß oligomers The EMBO journal37: 2018 |
| PubMed ID: 30348864 |
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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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