GM24406
Fibroblast from Skin, Skin
Description:
BETHLEM MYOPATHY
COLLAGEN, TYPE VI, ALPHA-2; COL6A2
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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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Skin
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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, Skin
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Race
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White
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Ethnicity
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WELSH/IRISH
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Country of Origin
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USA
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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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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 |
5.24 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
COL6A2 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
; BETHLEM MYOPATHY |
| Identified Mutation |
Del GT splice donor site |
| Remarks |
Clinically affected-most likely intermediate Collagen VI CMD phenotype; spine normal, symmetric; serial casting ankle bilaterally, right ankle worsening contracture; constipation; achieved and still maintains all of the following without assistance: held head up at about 1 month, turned in bed at about 2 months, sat at 10 months, stood at 12 months, walked at 18 months, climbed stairs at 2 1/2 years, and ran at 20 months; MRI showed T2 changes and diffuse fatty changes in lower extremities; COL6A2 deletion mutation in the obligatory GT splice donor site at exon 11-intron 11 junction (probable in frame deletion); creatine phosphokinase levels of 204 and 495; Northstar Assessment Score: 19, prior score of 24/34; medications include: deflazacort to improve motor function. |
| Cumulative PDL at Freeze |
5.24 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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