GM24343
LCL from B-Lymphocyte
Description:
BETHLEM MYOPATHY
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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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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GERMAN/SLOVAK
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
COL6A3 |
| Chromosomal Location |
2q37 |
| Allelic Variant 1 |
D563G; BETHLEM MYOPATHY |
| Identified Mutation |
ASP563GLY |
| Remarks |
Clinically affected; symptom onset at age range 6-10 years; current maximal motor function: walk without assistance greater than 10 steps; can hold head up, turn in bed, sit, stand, walk indoors, and climb stairs with a handrail, all without assistance; motor functions achieved but not currently maintained: walking outdoors without assistance and running; breathing support required at night only; donor subject is heterozygous for an A>G transition at nucleotide 1688 in exon 5 of the COL6A3 gene resulting in the substitution of glycine for aspartic acid at codon 563 [Asp563Gly (D563G)]; positive family history: mother, daughter (GM23324), sister and two nieces are also affected. |
| Split Ratio |
1:2 |
| 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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