GM12345

GM12345 LCL from B-Lymphocyte

Description:

CEPH/UTAH PEDIGREE 13281

Affected:

No Data

Sex:

Male

Age:

No Data

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

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

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:

$373.00USD

Academic/Non-profit/Government:

$216.00USD