GM07400
LCL from B-Lymphocyte
Description:
TUBEROUS SCLEROSIS 1; TSC1
APPARENTLY HEALTHY INDIVIDUAL
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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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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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10
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Relation to Proband
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paternal cousin
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Remarks |
No seizures or lesions; 2 small questionable white spots; no retinal lesions; head CT and kidney ultrasound scans were negative; daughter of GM07402 and GM07399 |
| 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 |
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| Smith M, Smalley S, Cantor R, Pandolfo M, Gomez MI, Baumann R, Flodman P, Yoshiyama K, Nakamura Y, Julier C, et al, Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics6(1):105-14 1990 |
| PubMed ID: 2303253 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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