GM20034
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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Ethnicity
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DUTCH
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
147670.0010; LEPRECHAUNISM, GELDEIMALSEN TYPE |
| Identified Mutation |
LEU233PRO; In a son of parents related as second cousins once removed, coming from the town of Geldeimalsen in the Netherlands, Klinkhamer et al. (1989) described a leucine-to-proline mutation at position 233. By DNA amplification, they showed that the patient was homozygous and the parents and 2 of the grandparents from the consanguineous line were heterozygous. All the heterozygotes showed decreased insulin binding to cultured fibroblasts and had mild insulin resistance in vivo.
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| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
147670.0010; LEPRECHAUNISM, GELDEIMALSEN TYPE |
| Identified Mutation |
LEU233PRO; In a son of parents related as second cousins once removed, coming from the town of Geldeimalsen in the Netherlands, Klinkhamer et al. (1989) described a leucine-to-proline mutation at position 233. By DNA amplification, they showed that the patient was homozygous and the parents and 2 of the grandparents from the consanguineous line were heterozygous. All the heterozygotes showed decreased insulin binding to cultured fibroblasts and had mild insulin resistance in vivo.
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| Remarks |
Clinically affected; died at 3 months of age; reduced amont of insulin-binding sites; donor subject carries a homozygous mutation in the INSR gene resulting in a substitution of proline for leucine at codon 233 [Leu233Pro(L233P)]; exon counting and quantitative PCR have not been done to confirm homozygosity, but mutation was found in both parents |
| Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Fery F, van der Zon GC, Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab88(9):4251-7 2003 |
| PubMed ID: 12970295 |
| Split Ratio |
1:2 |
| 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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