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GM21972 Fibroblast from Skin, Unspecified

Description:

MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1

Affected:

Yes

Sex:

Male

Age:

43 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; scoliosis; high narrow palate; dental crowding; hypermobile small joints; hypermobile large joints; arachnodactyly; myopia; bilateral ectopia lentis; ascending aortic aneurysm at age 42 years; severe mitral valve prolapse; mitral regurgitation; incisional hernia; striae; donor subject has a 1 bp deletion at nucleotide 2399 in exon 19 of the FBN1 gene (2399delC) resulting in a premature stop codon [Leu802Ter (L802X)]

Characterizations

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PDL at Freeze 6.1
Passage Frozen 9
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene FBN1
Chromosomal Location 15q21.1
Allelic Variant 1 L802X; MARFAN SYNDROME
Identified Mutation 2399delC

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 43 YR
Sex Male
 
Data Elements
Clinical Element Type: Marfan's Syndrome
  (Baseline)
Inheritance
Family history of Marfan Syndrome Yes  No  Unknown  
Growth
Disproportionate tall stature Yes  No  Unknown  
Puberty-associated peak in growth velocity Yes  No  Unknown  
Head and Neck
Dolichocephaly Yes  No  Unknown  
Long, narrow face Yes  No  Unknown  
Malar hypoplasia Yes  No  Unknown  
Micrognathia Yes  No  Unknown  
Retrognathia Yes  No  Unknown  
Enophthalmos Yes  No  Unknown  
Ectopia lentis Yes   No  Unknown 
If yes, type:  Bilateral
Myopia Yes   No  Unknown 
Increased axial globe length Yes  No  Unknown  
Corneal flatness Yes  No  Unknown  
Retinal detachment Yes  No   Unknown 
Iris hypoplasia Yes  No  Unknown  
Early glaucoma Yes  No  Unknown  
Early cataracts Yes  No  Unknown  
Down-slanting palpebral fissures Yes  No  Unknown  
High-arched palate Yes   No  Unknown 
Narrow palate Yes  No  Unknown  
Dental Crowding (malocclusion) Yes   No  Unknown 
Cardiovascular
Aortic regurgitation Yes  No  Unknown  
Mitral regurgitation Yes   No  Unknown 
Mitral valve prolapse Yes   No  Unknown 
Congestive heart failure Yes  No  Unknown  
Tricuspid valve prolapse Yes  No  Unknown  
Premature calcification of mitral annulus Yes  No  Unknown  
Aortic root dilatation (ascending aorta) Yes  No  Unknown  
Aortic dissection (ascending aorta) Yes  No   Unknown 
Ascending aortic aneurysm Yes   No  Unknown 
If yes, give age at diagnosis (yrs)  42
Dilatation or dissection of the descending or abdominal aorta before age 50 Yes  No  Unknown  
Pulmonary artery dilatation Yes  No  Unknown  
Aortic root replacement Yes  No   Unknown 
Atrial septal defect Yes  No  Unknown  
Respiratory
Emphysema in most severe presentation Yes  No  Unknown  
Pneumothorax Yes  No   Unknown 
Pulmonary blebs Yes  No  Unknown  
Chest
Pectus excavatum Yes  No   Unknown 
Pectus carinatum Yes  No   Unknown 
Thoracic asymmetry Yes  No  Unknown  
Abdomen
Hernia Yes   No  Unknown 
If yes, give type(s):  Incisional
Skeletal
Premature arthritis Yes  No  Unknown  
Scoliosis Yes   No  Unknown 
Kyphoscoliosis Yes  No  Unknown  
Thoracic lordosis Yes  No  Unknown  
Spondylolisthesis Yes  No  Unknown  
Lumbosacral dural ectasia Yes  No  Unknown  
Protrusio acetabulae Yes  No  Unknown  
Long bone overgrowth (dolichostenomelia) Yes  No   Unknown 
Joint laxity (hypermobility) Yes   No  Unknown 
If yes, list affected joints  SMALL AND LARGE JOINTS
Limited elbow extension Yes  No  Unknown  
Joint contractures Yes  No   Unknown 
Genu recurvatum Yes  No  Unknown  
Arachnodactyly Yes   No  Unknown 
Pes planus Yes  No  Unknown  
Long, narrow feet Yes  No  Unknown  
Pes cavus Yes  No  Unknown  
Hammer toes Yes  No  Unknown  
Medial rotation of the medial malleolus Yes  No  Unknown  
Muscle
Decreased muscle mass Yes  No  Unknown  
Skin, Nails, Hair
Striae distensae Yes   No  Unknown 
Decreased subcutaneous fat Yes  No  Unknown  
Central Nervous System
Dural ectasia Yes  No  Unknown  
major CNS involvement Yes  No  Unknown  
Laboratory Abnormalities
Decreased fibrillin-1 immunostaining in the dermis Yes  No  Unknown  
Molecular Basis
Mutation in FBN1 gene Yes  No  Unknown  
Remarks Clinically affected; scoliosis; high narrow palate; dental crowding; hypermobile small joints; hypermobile large joints; arachnodactyly; myopia; bilateral ectopia lentis; ascending aortic aneurysm at age 42 years; severe mitral valve prolapse; mitral regurgitation; incisional hernia; striae; donor subject has a 1 bp deletion at nucleotide 2399 in exon 19 of the FBN1 gene (2399delC) resulting in a premature stop codon [Leu802Ter (L802X)]

Publications

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Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U, Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes American journal of human genetics71:223-37 2002
PubMed ID: 12068374

External Links

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Gene Cards FBN1
Gene Ontology GO:0001501 skeletal development
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005578 extracellular matrix
GO:0005615 extracellular space
GO:0007275 development
GO:0007601 visual perception
NCBI Gene Gene ID:2200
NCBI GTR 134797 FIBRILLIN 1; FBN1
154700 MARFAN SYNDROME; MFS
OMIM 134797 FIBRILLIN 1; FBN1
154700 MARFAN SYNDROME; MFS
Omim Description MARFAN SYNDROME, TYPE I; MFS1
  MARFAN SYNDROME; MFS

Culture Protocols

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Passage Frozen 9
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 10% fetal bovine serum Not inactivated
Substrate None specified
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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