GM23330
Fibroblast from Skin, Unspecified
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
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 |
| 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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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 |
4.27 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| Identified Mutation |
1823-8G>A |
| Remarks |
Clinically affected; onset of symptoms before 2 years of age; diagnosed by muscle biopsy; acheived and currently maintains the following motor functions: held head up without assistance and walked withs assistance; acheived and currently does not maintain the following motor functions: turned in bed without assistance, sat without assistance only with knee ankle foot orthosis KAFO; donor subject has a G>A transition at 1823-8 in the COL6A1 gene (1823-8G>A) resulting in a slight effect on the nearby intron 29 splice acceptor site; part time wheelchair use; |
| Cumulative PDL at Freeze |
4.3 |
| 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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