GM24405
Fibroblast from Skin, Skin
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
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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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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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Not Hispanic/Latino
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Ethnicity
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ITALIAN/GERMAN/IRISH/SCOTTISH/ENGLISH/FRENCH
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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
|
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 |
4.45 |
| Passage Frozen |
2 |
| |
| 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 |
957+1G>A |
| Remarks |
Clinically affected; mild left thoracic prominence; constipation; achieved and still maintains all of the following without assistance: held up head at 18 months, turned in bed at 18 months, sat at 18 months, stood at 18 months, walked at 2 years, climbed stairs at 30 months, and ran at 2 1/2 years; creatine phosphokinase levels of 509 and 442; muscle biopsy showed abnormal collagen VI on IHC testing; Northstar Assessment Score of 16, previous 6 month Northstar Ambulatory assessment was 17/34; heterozygous for a COL6A1 mutation in exon 12/intron 12, c.957+1G>A, this mutation is likely a splice site mutation. |
| Cumulative PDL at Freeze |
4.45 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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