Description:
SMITH-LEMLI-OPITZ SYNDROME; SLOS
7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Placental
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.65 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
DHCR7 |
| Chromosomal Location |
11q12-q13 |
| Allelic Variant 1 |
602858.0001; SMITH-LEMLI-OPITZ SYNDROME |
| Identified Mutation |
IVS8-1G>C |
| |
| Gene |
DHCR7 |
| Chromosomal Location |
11q12-q13 |
| Allelic Variant 2 |
602858.0001; SMITH-LEMLI-OPITZ SYNDROME |
| Identified Mutation |
IVS8-1G>C |
| Remarks |
Placental fibroblast culture; 46,XY; external sex reversal with hydronephrosis and polydactyly; 7-dehydrocholesterol/cholesterol ratio percent = 2.81 [normal value = 0.3 +/- 0.2]; increased ratio is consistent with the diagnosis; donor subject is homozygous for an IVS8-1G>C mutation (c.964-1G>C) in the DHCR7 gene |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Substrate |
Commercially-treated plastic |
| Supplement |
- |
|
|