GM21498

GM21498 LCL from B-Lymphocyte

Description:

MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1

Affected:

Yes

Sex:

Male

Age:

47 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

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

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; aortic dissection; joint and neck pain; simple abnormal auricles; beaked nose; micrognathia; high palate; broad uvula; cataracts; downsloping ribs; pectus carinatum; wheezing; decreased breath sounds; blood pressure = 127/71; hyperextensibilty; cigarette paper scarring; striae; upper thoracic scoliosis; hyperextension of right shoulder, CMC joints, and DIP joints; limitation on left shoulder (flexion/extension) and neck mobility (left and right); pes planus; genu valga; arachnodactyly; poor sleep; asthma; fatigue; spine at C4-C5 has disc disease causing mild to moderate stenosis; disc desiccation at C5-C6; small hemangioma at the C6 vertebral body; donor has one allele with an A>G transition at nucleotide 83 of the FBN1 gene (c.83A>G) resulting in a substitution of a serine for an asparagine at codon 28 [Asn28Ser (N28S)]; see GM21499 Fibroblast