GM21948

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; high narrow palate; dental crowding; hypermobile small joints; positive wrist sign; arachnodactyly; myopia (>4 diopters); ascending aortic aneurysm; aortic root replacement at age 31 years; mitral valve prolapse; severe mitral regurgitation; striae; donor subject has a G>A change at nucleotide 3116 in exon 25 of the FBN1 gene (3116G>A) resulting in the substitution of tyrosine for cysteine at codon 1039 [Cys1039Tyr (C1039Y)]

Characterizations

PDL at Freeze

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

C1039Y; MARFAN SYNDROME

Identified Mutation

CYS1039TYR

Publications

Zhang RM, Tiedemann K, Muthu ML, Dinesh NEH, Komarova S, Ramkhelawon B, Reinhardt DP, Fibrillin-1-regulated miR-122 has a critical role in thoracic aortic aneurysm formation Cellular and molecular life sciences : CMLS79:314 2022

PubMed ID: 35606547

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