GM20327
Fibroblast from Skin, Unspecified
Description:
LEPRECHAUNISM
INSULIN RECEPTOR; INSR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Ethnicity
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Hispanic/Latino
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
10 |
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| 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 |
| 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)]. |
| 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 |
| Passage Frozen |
10 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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