GM21976

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; sternum has part excavatum deformity and part has carinatum deformity; scoliosis; high narrow palate; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; unilateral ectopia lentis; retinal detachment; mitral valve prolapse; mitral regurgitation; pneumothorax; hiatal hernia; striae; donor subject has a 1 bp insertion at nucleotide 3445 in exon 27 of the FBN1 gene (3445insC) resulting in a premature stop at codon 1158 [Glu1158Ter (E1158X)]

Characterizations

PDL at Freeze

4.51

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

E1158X; MARFAN SYNDROME

Identified Mutation

3445insC

Publications

Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023

PubMed ID: 38524212

Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U, Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes American journal of human genetics71:223-37 2002

PubMed ID: 12068374