GM26074
Fibroblast from Skin, Back
Description:
TUBEROUS SCLEROSIS, TYPE UNKNOWN
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Back
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Back
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Old Order Mennonite
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
4.68 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
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 |
- |
|
|