GM21932
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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| PDL at Freeze |
4.05 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 1 |
C1589F; MARFAN SYNDROME |
| Identified Mutation |
CYS1589PHE |
| Remarks |
Clinically affected; marked contractures of the elbows, knees, hips, fingers, ankles, and toes since birth; myopia with misshapen and dislocated lenses that were removed at age 18; at age 24 years he underwent aortic root replacement for annuloaortic ectasia and aneurysm of the ascending aorta; high narrow palate with dental crowding; no chest deformity or scoliosis; negative thumb and wrist signs; external ears low-set and malformed, but not crumpled; no family history; donor subject has a G>T change at nucleotide 4766 in exon 38 of the FBN1 gene (4766G>T) resulting in the substitution of phenylalanine for cysteine at codon 1589 [Cys1589Phe (C1589F)] |
| Satz-Jacobowitz B, Taye N, Karoulias SZ, Hubmacher D, Macromolecular crowding enhances fibrillin-1 deposition in the extracellular matrix European cells & materials43:277-292 2022 |
| PubMed ID: 35730482 |
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| Zhang RM, Tiedemann K, Muthu ML, Dinesh NEH, Komarova S, Ramkhelawon B, Reinhardt DP, Fibrillin-1-regulated miR-122 has a critical role in thoracic aortic aneurysm formation Cellular and molecular life sciences : CMLS79:314 2022 |
| PubMed ID: 35606547 |
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| Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U, Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains Human molecular genetics2:1813-21 1993 |
| PubMed ID: 8281141 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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