GM20033
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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TURKISH
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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 |
S323L; LEPRECHAUNISM |
| Identified Mutation |
SER323LEU |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
S323L; LEPRECHAUNISM |
| Identified Mutation |
SER323LEU |
| Remarks |
Clinically affected; typical dysmorphic features of leprechaunism; acanthosis nigricans; died at age 9 months; insulin level of 1800 pmol/liter; high-affinity insulin-binding sites markedly reduced (by ~70%); donor subject is homozygous for a C>T transition of the INSR gene resulting in a substitution of leucine for serine at codon 323 [Ser323Leu(S323L)]; 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 |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| 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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