GM21972

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; scoliosis; high narrow palate; dental crowding; hypermobile small joints; hypermobile large joints; arachnodactyly; myopia; bilateral ectopia lentis; ascending aortic aneurysm at age 42 years; severe mitral valve prolapse; mitral regurgitation; incisional hernia; striae; donor subject has a 1 bp deletion at nucleotide 2399 in exon 19 of the FBN1 gene (2399delC) resulting in a premature stop codon [Leu802Ter (L802X)]

Characterizations

PDL at Freeze

6.1

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

L802X; MARFAN SYNDROME

Identified Mutation

2399delC

Publications

Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U, Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes American journal of human genetics71:223-37 2002

PubMed ID: 12068374