GM24240
LCL from B-Lymphocyte
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE II, ALPHA-1; COL2A1
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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 |
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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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Polish, Western European
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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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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.6310-2A>G; COL6A3 gene encodes the alpha-3 chain of type VI collagen. |
| Remarks |
Clinically affected; progressive proximal weakness; contractures in ankles and knees;distal laxity;hyperkeratosis pilaris; rigid spine; easy fatigability; difficulty swallowing certain types of foods; maximum motor function ever achieved and still maintained: climbs stairs with handrail; holds head up, turns in bed, sits, stands, and walks indoors and outdoors without assistance; cannot run; mild sensory integration issues; behavioral problems; attention difficulties; cognitively bright; slightly elevated CK 400’s; functional mobility score: 3; CMD diagnosis confirmation by CK (blood test, creatine kinase abnormal) and genetic testing; COL6A3 mutation: heterozygous at junction of intron 18 and exon 19 at c.6310-2A>G which is predicted to interfere with the intron 18 splice acceptor site (mutation maybe working in a dominant manner); abnormal MRI /CT scan:"pineal gland cystic appearance, no mass present"; EMG myopathic. |
| 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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