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search submit
GM12345
LCL
from
B-Lymphocyte
Description:
CEPH/UTAH PEDIGREE 13281
Affected:
No Data
Sex:
Male
Age:
No Data
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
CEPH
Repository Linkage Families
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
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
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
Phenotypic Data
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
Growth
Disproportionate tall stature
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
Dilatation or dissection of the descending or abdominal aorta before age 50
No Data
Pulmonary artery dilatation
No Data
Aortic root replacement
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
Pectus carinatum
No Data
Thoracic asymmetry
No Data
Abdomen
Hernia
No Data
Skeletal
Premature arthritis
No Data
Scoliosis
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
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
Remarks
Son
External Links
dbSNP
dbSNP ID: 40
GEO
GEO Accession No: GSM420888
PharmGKB
Pharmgkb ID (requires login): PA126710475
Culture Protocols
Split Ratio
1:3
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
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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