GM21947

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; pectus carinatum; scoliosis; high narrow palate; dental crowding; contractures; hypermobile small joints; hypermobile large joints; arachnodactyly; myopia; bilateral ectopia lentis; retinal detachment; ascending aortic aneurysm at age 50 years; mitral valve prolapse; mitral regurgitation; striae; donor subject has a T>C change at nucleotide 1495 in exon 12 of the FBN1 gene (1495T>C) resulting in the substitution of arginine for cysteine at codon 499 [Cys499Arg (C499R)]

Characterizations

PDL at Freeze

7.15

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

C499R; MARFAN SYNDROME

Identified Mutation

CYS499ARG

Publications

Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U, Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes American journal of human genetics65:1007-20 1999

PubMed ID: 10486319