GM24509
Fibroblast from Skin, Skin
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
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
| Class |
Congenital Muscle Diseases |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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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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Country of Origin
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USA
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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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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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| PDL at Freeze |
8.08 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
MTM1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
p.D394H; |
| Identified Mutation |
c.1180G>C; p.D394H |
| Remarks |
Clinically affected; diagnosed at 1 month; severe congenital hypotonia and respiratory failure at birth; bilateral congenital club foot; thoracic scoliosis; bilateral ptosis; intermittent exotrophia (R>L); constipation; abnormal CT scan showed craniosynostosis: near complete syntosis of the left coronal suture; able to sit without assistance; muscle biopsy-70% of muscle fiber with central nuclei and myotubules; mutation in the MTM1 gene of c.1180G>C; p.D394H; assistive devices include: ventilator; surgeries include bilateral heel cord lengthening; g-tube placement; tracheostomy; mother is a known carrier, donor subject has a healthy twin sister (neither are in repository). |
| Cumulative PDL at Freeze |
8.08 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
| Supplement |
- |
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