GM23819
LCL from B-Lymphocyte
Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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IRISH
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
601097.0001; CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A |
| Identified Mutation |
DUP (17p); Lupski et al [Cell 66: 219 (1991)] found a DNA duplication as the apparent basis of CMT1A [Charcot-Marie-Tooth Disease, Type 1a (118220)]. The duplication was demonstrated in locus D17S122 (probe VAW409R3). |
| Remarks |
Clinically affected; symptom onset at birth; diagnosis at age 29 years; weakness in feet and hands; numbness; tingling; pain; club foot; hammertoe; DNA confirmation of PMP22 duplication; treatment includes physical and occupational therapy; surgery to lengthen tendon on left foot; uses cane/ walker; family history: paternal grandmother, father, 2 siblings, several aunts, uncles and cousins
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| 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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