GM23324
Fibroblast from Skin, Unspecified
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 |
| Class |
Congenital Muscle Diseases |
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Biopsy Source
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Unspecified
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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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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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GERMAN/FINNISH
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Family Member
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2
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Family History
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N
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Relation to Proband
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daughter
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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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| PDL at Freeze |
3.94 |
| Passage Frozen |
2 |
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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; positive family history: paternal grandmother, father, paternal aunt and two first cousins also affected; met all motor function milestones; can hold head up and sit unsupported for more than one hour; can walk unassisted both indoors and out; can climb stairs and run; 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)]; Affected father is GM24343. |
| Cumulative PDL at Freeze |
3.9 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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