GM21935

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; aortic dilatation; mitral valve prolapse; mitral valve regurgitation; dolichostenomelia; arachnodactyly; joint laxity; high narrow palate; ectopia lentis; myopia; donor subject has an intronic mutation in the FBN1 gene: IVS49+2del6 (6163+2del6) resulting in the deletion of exon 49

Characterizations

PDL at Freeze

6.11

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

skipped exon 49; MARFAN SYNDROME

Identified Mutation

IVS49+2del6

Publications

Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U, Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome Human molecular genetics5:1581-7 1996

PubMed ID: 8894692