Description:
SMITH-LEMLI-OPITZ SYNDROME; SLOS
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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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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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White
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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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ISCN
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45,XY,der(13;14)(13qter>13q10::14q10>14qter)
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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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13cen t(13;14)13cen |
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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 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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