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GM10692
LCL
from
B-Lymphocyte
Description:
MARFAN SYNDROME; MFS
Affected:
Yes
Sex:
Female
Age:
13
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Class
Disorders of Connective Tissue, Muscle, and Bone
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Family Member
3
Relation to Proband
daughter
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
At risk; striae; tall stature; scoliosis; arachnodactyly; questionable lens abnormality; normal ECHO exam
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
Phenotypic Data
Demographic Data
Relation to Proband
daughter
Age at Sampling
13 YR
Sex
Female
Racial Category
White
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
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
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
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
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
At risk; striae; tall stature; scoliosis; arachnodactyly; questionable lens abnormality; normal ECHO exam
External Links
dbSNP
dbSNP ID: 11419
Gene Cards
FBN1
NCBI GTR
154700 MARFAN SYNDROME; MFS
OMIM
154700 MARFAN SYNDROME; MFS
Omim Description
MARFAN SYNDROME, TYPE I; MFS1
MARFAN SYNDROME; MFS
Culture Protocols
Split Ratio
1:4
Temperature
37 C
Percent CO2
5%
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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