GM27142
LCL from B-Lymphocyte
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
PIGI Consented Sample
Muscular Dystrophies
CMD Specific |
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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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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German; Polish; Norwegian; Swedish
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Country of Origin
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USA
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Family Member
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4
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Family History
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N
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Relation to Proband
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brother
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
premature stop; |
| Identified Mutation |
c.1421_1422insC |
| |
| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
p.Trp453Cys (W453C); RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
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| Identified Mutation |
c.1359 G>C (W453C); Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; 125660), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene (Ferreiro et al., 2004).
For other forms of DRM, see primary desminopathy (601419). |
| Remarks |
Clinically affected; congenital myopathy; Symptoms include generalized weakness, hypotonia, decreased muscle bulk, gross motor delay, failure to thrive, cachexia, barrell-shaped chest, kyphosis, winged scapulae, and orotic aciduria; Whole exome sequencing showed individual is compound heterozygous for the c.1421_1422insC (p.Glu474AspfsX93) mutation and c.1359G>C (p.W453C) variant in the SEPN1 gene; Additional variant of unknown significance identified in the mitochondrial MT-CYB gene - m.15069 T>C (p.L108P); Affected brother is GM27142; Unaffected mother is GM27141; Unaffected father is GM27140; Has achieved and maintained: holding head up without assistance, sitting without assistance, walking without assistance, and running. |
| Split Ratio |
1:4 |
| 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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