GM21943

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; severe pectus excavatum; scoliosis; high narrow palate; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; myopia; bilateral ectopia lentis; ascending aortic aneurysm at age 8 years; mitral valve prolapse; mitral regurgitation; unilateral hernia; striae; donor subject has a G>A change at nucleotide 3725 in exon 30 of the FBN1 gene (3725G>A) resulting in the substitution of tyrosine for cysteine at codon 1242 [Cys1242Tyr (C1242Y)]; culture grows slowly

Characterizations

PDL at Freeze

6.54

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

134797.0026; MARFAN SYNDROME

Identified Mutation

CYS1242TYR; In a patient with Marfan syndrome, Kainulainen et al. (1994) identified a G-to-A change at nucleotide 3725 of the FBN1 gene, resulting in a cys1242-to-tyr substitution.

Publications

Yin X, Wanga S, Fellows A, Barallobre-Barreiro J, Lu R, Davaapil H, Franken R, Fava M, Baig F, Skroblin P, Xing Q, Koolbergen DR, Groenink M, Zwinderman AH, Balm R, de Vries CJM, Mulder BJM, Viner R, Jahangiri M, Reinhardt DP, Sinha S, de Waard V, Mayr M, Glycoproteomic Analysis of the Aortic Extracellular Matrix in Marfan Patients Arteriosclerosis, thrombosis, and vascular biology:ATVBAHA118312175 2019

PubMed ID: 31315432

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