NA04520
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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 |
6.6 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
del ex1-14; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
DEL EX1-14 |
| Remarks |
Clinically affected; seizures since age 4; mild mental retardation; adenoma sebaceum; hypopigmented macules on right flank and right distal thigh; cerebral calcifications on EMI scan; donor subject has a large deletion of exons 1 through 14 in the TSC2 gene resulting in no transcription of the normal TSC2 gene due to the deleted exon 1; polymorphisms in TSC1 include 965T>C, 1335A>G, and 1440C>T; polymorphisms in the TSC2 gene include 4272C>T, 5202T>C, and 5259+72C>T; same donor as GM04519 lymphocyte. |
| 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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| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine116:2977-2986 2018 |
| PubMed ID: 30293986 |
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| Blair JD1, Hockemeyer D1, Bateup HS2,3., Genetically engineered human cortical spheroid models of tuberous sclerosis Nature Medicine116:2977-2986 2018 |
| PubMed ID: 30127391 |
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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 journal37:2977-2986 2018 |
| PubMed ID: 30348864 |
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| Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ, Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations Human genetics121:389-400 2006 |
| PubMed ID: 17287951 |
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