GM01982
LCL from B-Lymphocyte
Description:
MENKES SYNDROME
ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization - other
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ISCN
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46,XY
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MNK GENE; MENKES SYNDROME |
Das et al (Am J Hum Genet 55:883-889,1994) reported that fibroblasts from this Menkes syndrome patient showed a five bp deletion, ATCTT, from nucleotide 803-807 in the MNK gene. The mutation results in a frameshift after Leu-219 and decreased level of mRNA detected by northern blot analysis. |
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| Gene |
ATP7A |
| Chromosomal Location |
Xq21.1 |
| Allelic Variant 1 |
fs Leu219; MENKES DISEASE |
| Identified Mutation |
803_807delATCTC |
| Remarks |
See GM01981 Fibroblast; 46,XY; fibroblasts show elevated copper concentration; donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219 |
| Petrovic N, Comi A, Ettinger MJ, Copper incorporation into superoxide dismutase in Menkes lymphoblasts. J Biol Chem271:28335-40 1996 |
| PubMed ID: 8910456 |
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| 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 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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