GM21952

GM21952 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 T>C change at nucleotide 6331 in exon 51 of the FBN1 gene (6331T>C) resulting in the substitution of arginine for cysteine at codon 2111 [Cys2111Arg (C2111R)]

Characterizations

PDL at Freeze

7.66

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

C2111R; MARFAN SYNDROME

Identified Mutation

CYS2111ARG

Phenotypic Data

Remarks

Clinically affected; donor subject has a T>C change at nucleotide 6331 in exon 51 of the FBN1 gene (6331T>C) resulting in the substitution of arginine for cysteine at codon 2111 [Cys2111Arg (C2111R)]

Publications

Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020

PubMed ID: 32706999