GM26074
Fibroblast from Skin, Back
Description:
TUBEROUS SCLEROSIS, TYPE UNKNOWN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Back
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Back
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Old Order Mennonite
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Country of Origin
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USA
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Family History
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N
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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 |
4.68 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; skin fibroblast derived from biopsied hypopigmented macule tissue; onset of symptoms at 6 months of age; diagnosed at 17 months; complex partial seizures; small confluent hypopigmented macules on back; mild right hemiparesis- involving hand more than the leg; developmental delay- at age 2: walks with a steady gait and good balance; has 50-100 spontaneous words, combines 2-3 words ; abnormal MRI: small subependymal nodules noted in both lateral ventricles, cortical dysplasia/tubers in anterior left frontal lobe, posterior left frontal lobe (cortical thickening), left occipital lobe and right parietal lobe; abnormal EEG: potential epileptogenicity in the left frontal region; whole exome sequencing did not reveal any identified pathogenic variants in TSC1 or TSC1; normal Affymetrix CytoScan; management: physical and occupational therapy; medications include: Keppra and Diastat; family history: no known history of tuberous sclerosis, subject has 3 healthy older brothers; maternal uncle has congenital mental handicap and seizures of unknown etiology. |
| Passage Frozen |
2 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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