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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Black/African American
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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 |
5.1 |
| Passage Frozen |
4 |
| |
| 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 |
; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
2743-1G>A |
| Remarks |
Clinically affected; seizures; hypomelanotic macules on left cheek; facial angiofibromas; confetti like hypopigmented macules scattered over lower legs; shagreen patches on posterior right shoulder, mid-upper back, mid-lower back, and right posterior thigh; adenoma sebaceum; two small scalp papules; ungual fibromas on left thumb and index finger and right thumb, index finger and middle finger; decreased visual acuity in right eye; donor subject has a splice acceptor mutation in the TSC2 gene [2743-1G>A] resulting in a skipped exon; polymorphisms in the TSC2 gene include 1100G>A, 2546-12C>T, 2639+44C>G, 2580T>C, and 5202T>C; same donor as GM06099 lymphocyte. |
| Al-Choboq J, Ferlazzo ML, Sonzogni L, Granzotto A, El-Nachef L, Maalouf M, Berthel E, Foray N, Usher Syndrome Belongs to the Genetic Diseases Associated with Radiosensitivity: Influence of the ATM Protein Kinase International journal of molecular sciences23: 2022 |
| PubMed ID: 35163494 |
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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 |
1:4 |
| 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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