GM10680
LCL from B-Lymphocyte
Description:
MYOTUBULAR MYOPATHY 1; MTM1
MYOTUBULARIN; MTM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Clinical summary/Case history
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
MTM1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
D431N;D433N; MYOTUBULAR MYOPATHY, X-LINKED |
| Identified Mutation |
ASP431ASN;ASP433ASN |
| Remarks |
Congenital generalized hypotonia; 2 affected maternal uncle; EM of biopsy showed small muscle cells with malalignment central of myofibrils, internalization of nuclei; hollow central cores; carries 2 missense mutations in MTM1 gene: Asp431Asn (D431N) and Asp433Asn (D433N) |
| Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E, Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro- Muscular Center. Hum Mol Genet6:1505-11 1997 |
| PubMed ID: 9305655 |
| Split Ratio |
1:3 |
| 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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