GM20035
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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KURDISTANI
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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 |
R1092W; LEPRECHAUNISM |
| Identified Mutation |
ARG1092TRP |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
R897X; LEPRECHAUNISM |
| Identified Mutation |
ARG897TER |
| Remarks |
Clinically affected; hirsutism; acanthosis nigricans; extreme hyperinsulinism (19,500 pmol/liter); died at age 9 months; high-affinity insulin-binding sites markedly reduced (by ~70%); donor subject is a compound heterozygote: one allele has a C>T transition of the INSR gene resulting in a substitution of tryptophan for arginine at codon 1092 [Arg1092Trp(R1092W)] and a second allele has a C>T transition of the INSR gene resulting in a substitution of a stop codon for arginine at codon 897 [Arg897Stop(R897X)]; the Arg897Stop mutation apparently resulted from a novel germline mutation because the parents did not carry this mutation and the biological relationship was confirmed. |
| 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 |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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