GM21499
Fibroblast from Skin, Unspecified
Description:
MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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 Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| Passage Frozen |
3 |
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| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 1 |
N28S; MARFAN SYNDROME |
| Identified Mutation |
ASN28SER |
| Remarks |
Clinically affected; aortic dissection; joint and neck pain; simple abnormal auricles; beaked nose; micrognathia; high palate; broad uvula; cataracts; downsloping ribs; pectus carinatum; wheezing; decreased breath sounds; blood pressure = 127/71; hyperextensibilty; cigarette paper scarring; striae; upper thoracic scoliosis; hyperextension of right shoulder, CMC joints, and DIP joints; limitation on left shoulder (flexion/extension) and neck mobility (left and right); pes planus; genu valga; arachnodactyly; poor sleep; asthma; fatigue; spine at C4-C5 has disc disease causing mild to moderate stenosis; disc desiccation at C5-C6; small hemangioma at the C6 vertebral body; donor has one allele with an A>G transition at nucleotide 83 of the FBN1 gene (c.83A>G) resulting in a substitution of a serine for an asparagine at codon 28 [Asn28Ser (N28S)]; see GM21498 Lymphoid |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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