Description:
MYOTUBULAR MYOPATHY 1; 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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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46,XY[19]
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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 |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Gene |
MTM1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; MYOTUBULAR MYOPATHY, X-LINKED |
| Identified Mutation |
646delT |
| Remarks |
Hypotonia; respiratory distress; cryptorchidism mild contractures of knees; overlapping fingers; micrognathia; 46,XY in lymphs and fibros; two nucleotide changes, 646delT and C>A at 648, result in frameshift in exon 8 in MTM1 gene |
| 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 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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