NA03044
DNA from Fibroblast
Description:
SMITH-LEMLI-OPITZ SYNDROME; SLOS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
45,XY,der(13;14)(13qter>13q10::14q10>14qter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13cen t(13;14)13cen |
|
Chromosome 14: TRANSLOCATION Breakpoint 14cen t(13;14)14cen |
| Remarks |
45,XY,t(13;14)(13qter>cen>14qter); unbalanced in fibroblasts; clinically affected; increased 7-dehydrocholesterol/cholesterol ratio |
| Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA, Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome Biol Psychiatry: 2013 |
| PubMed ID: 23896203 |
| |
| Page SL, Shin JC, Han JY, Choo KH, Shaffer LG, Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet5(9):1279-88 1996 |
| PubMed ID: 8872467 |
|
|