GM26577
LCL from B-Lymphocyte
Description:
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
PERIPHERAL MYELIN PROTEIN 22; PMP22
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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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 LINE assay |
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| Gene |
PMP22 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
; NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
| Identified Mutation |
EX1-5DEL |
| Remarks |
Clinically affected; onset of symptoms at 24 years; diagnosed at 31 years; MLPA reported heterozygous exons deletion 1-5 in the PMP22 gene; residual right peroneal neuropathy; left peroneal neuropathy with slowing at the fibular head and signs of conduction block; right ulnar neuropathy at the elbow with signs of conduction block across the elbow; Hereditary neuropathy with liability to pressure palsies; HNPP Peripheral Myelin Protein 22; PMP22. |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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