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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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|
Race
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Black/African American
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|
Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
; LEPRECHAUNISM |
| Identified Mutation |
c.5C>G (p.Ala2Gly) |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
; LEPRECHAUNISM |
| Identified Mutation |
c.5C>G (p.Ala2Gly) |
| Remarks |
Pre- and post-natal growth retardation; microcephaly; mental retardation; clitoromegaly; pachydermy; severe insulin resistance; patient has sickle cell trait; 46,XX in PBL; see GM10267 Lymphoid |
| Iovino S, Burkart AM, Kriauciunas K, Warren L, Hughes KJ, Molla M, Lee YK, Patti ME, Kahn CR, Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells Diabetes63:4130-42 2014 |
| PubMed ID: 25059784 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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