Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
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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 |
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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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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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German, Scottish, Irish
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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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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| PDL at Freeze |
2.92 |
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
R2809*; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
ARG2809*; Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-, and developmental stage-specific (Stedman et al., 1988). A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs (Pelin et al., 1999). |
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| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
LEU8106*; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
LEU8106*; Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-, and developmental stage-specific (Stedman et al., 1988). A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs (Pelin et al., 1999). |
| Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 18 months; hypotonia from birth; failure to thrive; developmental delay; respiratory failure, acute and chronic; ventilator dependent; cardiac murmurs; speech impairment; maximum motor function achieved: walk with assistance; echocardiogram performed with no outstanding findings; muscle biopsy of left thigh revealed myopathy with abundant nemaline rods; sequencing of the NEB gene revealed subject is compound heterozygous for two pathogenic mutations: c.8425C>T resulting in a premature protein termination (p.Arg2809Stop) in exon 61 and c.24317T>A resulting in a premature protein termination (p.Leu8106Stop) in exon 172; treatments: physical therapy, occupational therapy, psychological therapy, speech language therapy; medications: Flovent, Zyrtec, Albuterol PRN; surgeries: tracheostomy, g-tube, Vertical Expandable Prosthetic Titanium Rib (VEPTR); assistive devices: wheelchair, braces, orthotics; see lymphoblast GM25250. |
| Cumulative PDL at Freeze |
2.92 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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