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NA12345 DNA from LCL

Description:

CEPH/UTAH PEDIGREE 13281

Affected:

No Data

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection CEPH
Repository Linkage Families
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity UTAH/MORMON
Family Member 3
Relation to Proband son
Confirmation Karyotypic analysis after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Son

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Demographic Data
Relation to Proband son
Sex Male
Racial Category White
 
Data Elements
Clinical Element Type: Marfan's Syndrome
  (Baseline)
Inheritance
Family history of Marfan Syndrome Yes   No  Unknown 
If yes, give relationship of affected family members  No Data
Growth
Length at birth in cm  No Data
Adult height in cm  No Data
Disproportionate tall stature  No Data
Arm span to height ratio (give ratio)  No Data
Puberty-associated peak in growth velocity  No Data
Head and Neck
Dolichocephaly  No Data
Long, narrow face  No Data
Malar hypoplasia  No Data
Micrognathia  No Data
Retrognathia  No Data
Enophthalmos  No Data
Ectopia lentis  No Data
If yes, type:  Unilateral
Myopia  No Data
If yes, type  Mild
Increased axial globe length  No Data
Corneal flatness  No Data
Retinal detachment  No Data
Iris hypoplasia  No Data
Early glaucoma  No Data
Early cataracts  No Data
Down-slanting palpebral fissures  No Data
High-arched palate  No Data
Narrow palate  No Data
Dental Crowding (malocclusion)  No Data
Cardiovascular
Aortic regurgitation  No Data
Mitral regurgitation  No Data
Mitral valve prolapse  No Data
Congestive heart failure  No Data
Tricuspid valve prolapse  No Data
Premature calcification of mitral annulus  No Data
Aortic root dilatation (ascending aorta)  No Data
Aortic dissection (ascending aorta)  No Data
Ascending aortic aneurysm  No Data
If yes, give age at diagnosis (yrs)  No Data
Dilatation or dissection of the descending or abdominal aorta before age 50  No Data
Pulmonary artery dilatation  No Data
Aortic root replacement  No Data
If yes, give age at time of replacement (yrs)  No Data
Atrial septal defect  No Data
Respiratory
Emphysema in most severe presentation  No Data
Pneumothorax  No Data
Pulmonary blebs  No Data
Chest
Pectus excavatum  No Data
If yes, type:  No Data
Pectus carinatum  No Data
If yes, type:  No Data
Thoracic asymmetry  No Data
Abdomen
Hernia  No Data
If yes, give type(s):  No Data
Skeletal
Premature arthritis  No Data
Scoliosis  No Data
If yes, type:  No Data
Kyphoscoliosis  No Data
Thoracic lordosis  No Data
Spondylolisthesis  No Data
Lumbosacral dural ectasia  No Data
Protrusio acetabulae  No Data
Long bone overgrowth (dolichostenomelia)  No Data
Joint laxity (hypermobility)  No Data
If yes, list affected joints  No Data
Limited elbow extension  No Data
Joint contractures  No Data
Genu recurvatum  No Data
Arachnodactyly  No Data
Pes planus  No Data
Long, narrow feet  No Data
Pes cavus  No Data
Hammer toes  No Data
Medial rotation of the medial malleolus  No Data
Muscle
Decreased muscle mass  No Data
Skin, Nails, Hair
Striae distensae  No Data
Decreased subcutaneous fat  No Data
Central Nervous System
Dural ectasia  No Data
major CNS involvement  No Data
Laboratory Abnormalities
Decreased fibrillin-1 immunostaining in the dermis  No Data
Molecular Basis
Mutation in FBN1 gene  No Data
If yes, give mutation  No Data
Remarks Son

External Links

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dbSNP dbSNP ID: 40
GEO GEO Accession No: GSM420888
PharmGKB Pharmgkb ID (requires login): PA126710475
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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Same Subject
  • GM12345 - B-Lymphocyte
Same Family
  • 13281
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  • XC13281
Miscellaneous
  • Custom Services

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