NA21931

NA21931 DNA from Fibroblast

Description:

MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1

Affected:

Yes

Sex:

Female

Age:

48 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Quantity

10 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; long extremities; tall stature; marked pectus excavatum; no ocular manifestations; aortic aneurysm and mitral valve prolapse were noted at age 45 years; she underwent replacement of the aortic root and ascending aorta with a composite graft; two affected sons; donor subject has a 17 bp deletion at nucleotide 3464 in exon 28 of the FBN1 gene (3464del17) resulting in a frameshift and a stop codon at 1186

Characterizations

PDL at Freeze

9.08

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

stop at codon 1186; MARFAN SYNDROME

Identified Mutation

3464del17

Phenotypic Data

Remarks

Publications

Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U, Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains Human molecular genetics2:1813-21 1993

PubMed ID: 8281141