GM21942

GM21942 Fibroblast from Skin, Unspecified

Description:

MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1

Affected:

Yes

Sex:

Male

Age:

No Data

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

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>A change at nucleotide 3458 in exon 27 of the FBN1 gene (3458G>A) resulting in the substitution of tyrosine for cysteine at codon 1153 [Cys1153Tyr (C1153Y)]

PDL at Freeze

3.76

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

FBN1

Chromosomal Location

15q21.1

Allelic Variant 1

C1153Y; MARFAN SYNDROME

Identified Mutation

CYS1153TYR

Remarks

Clinically affected; donor subject has a G>A change at nucleotide 3458 in exon 27 of the FBN1 gene (3458G>A) resulting in the substitution of tyrosine for cysteine at codon 1153 [Cys1153Tyr (C1153Y)]

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

Gene Cards

FBN1

Gene Ontology

GO:0001501 skeletal development

GO:0005201 extracellular matrix structural constituent

GO:0005509 calcium ion binding

GO:0005578 extracellular matrix

GO:0005615 extracellular space

GO:0007275 development

GO:0007601 visual perception

NCBI Gene