GM24391
LCL from B-Lymphocyte
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-3; COL6A3
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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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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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Asian
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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CHINESE
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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
|
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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
COL6A3 |
| Chromosomal Location |
2q37 |
| Allelic Variant 1 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD |
| Identified Mutation |
c.5044delC; COL6A3 gene encodes the alpha-3 chain of type VI collagen. |
| |
| Gene |
COL6A3 |
| Chromosomal Location |
2q37 |
| Allelic Variant 2 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD |
| Identified Mutation |
c.7066G>T; COL6A3 gene encodes the alpha-3 chain of type VI collagen. |
| Remarks |
Clinically affected; motor function currently maintained: holding head up; two mutations identified in the COL6A3 gene: exon 11, c.5044delC, p.GLN1682SERfsStop, and exon 32, c.7066G>T, p.GLY2356Stop; blood creatine phosphokinase level: 106 IU/L; surgery to correct scoliosis. |
| Split Ratio |
1:3 |
| 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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