GM27199
LCL from B-Lymphocyte
Description:
BETHLEM MYOPATHY
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
PIGI Consented Sample |
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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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English, Irish
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Country of Origin
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CANADA
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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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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 |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
p.Gly281Arg; BETHLEM MYOPATHY 1; BTHLM1 |
| Identified Mutation |
c.841G>A |
| Remarks |
Clinically affected; age of diagnosis 47 years and age of symptom onset at birth; current motor function includes holding head up when sitting and sitting when placed; maximum motor function included climbing at least 4 stairs without handrail; heterozygous genetic variant found in COL6A1 gene c.841G>A (p.Gly281Arg); BiPAP used most/all nights for less than 12 hours; assistive devices include a wheelchair and service animal; treatments include physical therapy, occupational therapy, and orthopedic surgery; medications include diovan. |
| 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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