NA24384
DNA from Fibroblast
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
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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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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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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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Country of Origin
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USA
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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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Biochemical 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 |
5.98 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| Identified Mutation |
850G>A |
| |
| Gene |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 2 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| Identified Mutation |
1182+3G>A |
| |
| Gene |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 3 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| Identified Mutation |
1814-6C>G |
| Remarks |
Clinically affected; hypotonia noted at birth; sat without assistance, but lost the ability to at 10 years of age; history of hypoglycemia; pneumonia complicated with pneumothorax and pulmonary failure; scoliosis; right hip dislocation; severe alveolar hypoventilation and chronic respiratory insufficiency; high risk of aspiration; difficulty swallowing; vitamin D deficient; osteoporosis of disuse; frequent irritability; creatine phosphokinase 26 IU/L and 28 IU/L; 3 mutations identified in the COL6A1 gene: heterozygous exon 9 c.850G>A missense triple helix domain Gly284Arg; exon 16 c.1182+3G>A splice donor and exon 29 c.1814-6C>G splice acceptor; assistive devices include sip-ventilator; surgeries include scoliosis surgery. |
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