GM00035

Coriell Institute for Medical Research

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GM00035 Fibroblast

Description:

MARFAN SYNDROME; MFS

Affected:

Yes

Sex:

Male

Age:

12 YR (At Sampling)

Overview
Characterizations
Phenotypic Data
Publications
External Links
Images
Culture Protocols

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

brother

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XY; kyphoscoliosis; tall; long arms

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Demographic Data

Relation to Proband

brother

Age at Sampling

12 YR

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

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

46,XY; kyphoscoliosis; tall; long arms

Publications

Michael, Biochemical studies on the Marfan syndrome. Clin Res26:74A (1978): 1978

PubMed ID:

External Links

dbSNP

dbSNP ID: 18033

Gene Cards

FBN1

NCBI GTR

154700 MARFAN SYNDROME; MFS

OMIM

154700 MARFAN SYNDROME; MFS

Omim Description

MARFAN SYNDROME, TYPE I; MFS1

MARFAN SYNDROME; MFS

Images

View

pedigree

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Subcultivation Method

trypsin-EDTA

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

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How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form