NA23651
DNA from Fibroblast
Description:
SELENON-RELATED MYOPATHY;
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
SELENOPROTEIN N, 1; SEPN1
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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 |
| Class |
Congenital Muscle Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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DNA from Fibroblast
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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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ASHKENAZI JEWISH
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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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ISCN
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46,XY.arr(1-22)x2,(XY)x1
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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 |
7.2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
606210.0006; RIGID SPINE MUSCULAR DYSTROPHY 1 |
| Identified Mutation |
713dupA (c.713_714Ins); 1-bp insertion in the SEPN1 gene that was found in compound heterozygous state in patients with multiminicore disease (602771) by Ferreiro et al. (2002) |
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| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 2 |
606210.0006; RIGID SPINE MUSCULAR DYSTROPHY 1 |
| Identified Mutation |
713dupA (c.713_714Ins); 1-bp insertion in the SEPN1 gene that was found in compound heterozygous state in patients with multiminicore disease (602771) by Ferreiro et al. (2002) |
| Remarks |
Clinically affected; onset of symptoms before age 2 years; diagnosed by muscle biopsy and muscle imaging (MRI); normal creatine kinase; no developmental delay; left ventricle shortening fraction is 32%; donor subject is homozygous for a 1 bp duplication at nucleotide 713 in exon 5 of the SEPN1 gene (713dupA) predicted to result in a frameshift and premature protein termination (p.Asn238LysfsStop63); LCL from same subject is GM24369. |
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