GM21953

GM21953 Fibroblast from Skin, Unspecified

Description:

MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1

Affected:

Yes

Sex:

Male

Age:

No Data

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; donor subject has a G>T change at nucleotide 6509 of the FBN1 gene (6509G>T) resulting in the substitution of phenylalanine for cysteine at codon 2170 [Cys2170Phe (C2170F)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

C2170F; MARFAN SYNDROME

Identified Mutation

CYS2170PHE

Phenotypic Data

Remarks

Clinically affected; donor subject has a G>T change at nucleotide 6509 of the FBN1 gene (6509G>T) resulting in the substitution of phenylalanine for cysteine at codon 2170 [Cys2170Phe (C2170F)]