GM20327

GM20327 Fibroblast from Skin, Unspecified

Description:

LEPRECHAUNISM
INSULIN RECEPTOR; INSR

Affected:

Yes

Sex:

Female

Age:

2 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Ethnicity

Hispanic/Latino

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; born at 36 weeks gestation; severe intrauterine growth restriction; dysmorphic features; poor weight gain after birth; hyperglycemia (glucose 307 mg/dl) diagnosed at 2 months of age; elevated insulin levels on multiple occasions; died at 4 months of age; specific binding of insulin (to fibroblasts) = 0.01 +/- 0.01 (fmol/mg cell protein) with normal range being 1.01 - 2.20; levels of insulin receptor mRNA in fibroblasts is reduced to 15% or less of those measured in controls; donor subject is homozygous for a G>T transversion at nucleotide 451 in exon 2 of the INSR gene [451G>T] resulting in a substitution of a stop codon for glutamic acid at codon 124 [Glu124Ter (E124X)].

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

INSR

Chromosomal Location

19p13.2

Allelic Variant 1

E124X; LEPRECHAUNISM

Identified Mutation

GLU124TER

Gene

INSR

Chromosomal Location

19p13.2

Allelic Variant 2

E124X; LEPRECHAUNISM

Identified Mutation

GLU124TER

Phenotypic Data

Remarks

Publications

Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D, Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet11(12):1465-75 2002

PubMed ID: 12023989