NA04598
DNA from Fibroblast
Description:
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1
GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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Clinical summary/Case history
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ISCN
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47,XY,+7,9qh+[10]/46,XY,9qh+[40]
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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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| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
GJB1 |
| Chromosomal Location |
Xq13.1 |
| Allelic Variant 1 |
304040.0003; CHARCOT-MARIE-TOOTH DISEASE, X-LINKED |
| Identified Mutation |
VAL139MET; In a family with X-linked Charcot-Marie-Tooth disease (302800), Bergoffen et al [Science 262: 2039 (1993)] found a G-to-A transition in codon 139 of the CX32 gene, resulting in a substitution of methionine for valine (V139M) in the third transmembrane domain. |
| Remarks |
Clinically affected; hypertrophic variety of CMT disease; diagnosis confirmed by nerve conductivity tests; donor subject is hemizygous for a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 [Val139Met (V139M)]; affected mother is GM04597; affected sister is GM04594; affected niece is GM04595; affected great aunt is GM04596. |
| Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al, New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology45:1863-6 1995 |
| PubMed ID: 7477983 |
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| Heimler A, Friedman E, Rosenthal AD, Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family. J Med Genet15:288-91 1978 |
| PubMed ID: 712760 |
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| Swift MR, Horowitz SL, Familial jaw cysts in Charcot-Marie-Tooth disease. J Med Genet6:193-5 1969 |
| PubMed ID: 5801467 |
| dbSNP |
dbSNP ID: 18997 |
| Gene Cards |
GJB1 |
| Gene Ontology |
GO:0005922 connexon complex |
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GO:0006810 transport |
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GO:0007267 cell-cell signaling |
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GO:0007399 neurogenesis |
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GO:0015285 connexon channel activity |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:2705 |
| NCBI GTR |
302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 |
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304040 GAP JUNCTION PROTEIN, BETA-1; GJB1 |
| OMIM |
302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 |
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304040 GAP JUNCTION PROTEIN, BETA-1; GJB1 |
| Omim Description |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 |
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CMT2, FORMERLY |
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CMTX |
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HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED |
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HMSN, X-LINKED |
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