Description:
MENKES SYNDROME
ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
ATP7A |
| Chromosomal Location |
Xq21.1 |
| Allelic Variant 1 |
skipped exon 8; MENKES DISEASE |
| Identified Mutation |
IVS8DS+2, T>C |
| Remarks |
Line S1190; has decreased level of mRNA; donor subject has a splice donor mutation in the ATP7A gene, CAgt>CAgc junction 2091/2092 (IVS8DS+2,T>C), resulting in a frameshift mutation due to skipping of exon 8 |
| Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J, Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet55:883-889 1994 |
| PubMed ID: 7977350 |
| Passage Frozen |
11 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| 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 |
- |
|
|