GM20328
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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Race
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White
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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 |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
; LEPRECHAUNISM |
| Identified Mutation |
3-BP DEL (N281) |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
; LEPRECHAUNISM |
| Identified Mutation |
IVS13+1,G>A |
| Remarks |
Clinically affected; birth weight 1,590 g at 42 weeks gestation (<5th percentile); hirsutism; acanthosis nigricans; peripheral edema; thickened lips; prominent nipples; disproportionately large genitalia; heart murmur; developmental delay; failure to thrive; severe constipation; recurrent upper respiratory tract infections; died at 26 months; autopsy revealed: severe pulmonary hypertension, moderate concentric bilateral hypertrophy of heart, focal areas of proliferation of bile ducts, and hepatocytes contained PAS positive granules; fasting hypoglycemia and postprandial hyperglycemia with elevated levels of circulating insulin (1,200 uU/ml) noted in neonatal period; specific binding of insulin (to fibroblasts) = 0.02 +/- 0.02 (fmol/mg cell protein) with normal range being 1.01 - 2.20; donor subject is a compound heterozygote: one allele has an in-frame deletion of three nucleotides resulting in the deletion of codon 281 in exon 3 of the INSR gene [del c.1159-1161, N281] and a second allele has a G>A transition in the first nucleotide of the splice-donor junction in intron 13 of the INSR gene resulting in an in-frame deletion of amino acids 859-867 [IVS 13+1, G>A]. |
| 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 |
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| Longo N, Langley SD, Griffin LD, Elsas LJ, Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. J Clin Endocrinol Metab80(5):1496-501 1995 |
| PubMed ID: 7538143 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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