GM20032
Fibroblast from Skin, Unspecified
Description:
LEPRECHAUNISM
INSULIN RECEPTOR; INSR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Ethnicity
|
DUTCH
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.27 |
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
L93Q; LEPRECHAUNISM |
| Identified Mutation |
LEU93GLN |
| |
| Gene |
INSR |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
Y1122X; LEPRECHAUNISM |
| Identified Mutation |
TYR1122TER |
| Remarks |
Clinically affected; hirsutism; cardiomyopathy; died at age 3 months; increased circulating insulin levels (above 6000 pmol/liter); reduced insulin binding; donor subject is a compound heterozygote: one allele has a T>A transversion of the INSR gene resulting in a substitution of glutamine for leucine at codon 93 [Leu93Gln(L93Q)] and a second allele has a C>A transversion of the INSR gene resulting in a substitution of a stop codon for a tyrosine at codon 1122 [Tyr1122Stop(Y1122X)]. |
| 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 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Commercially-treated plastic |
| Supplement |
- |
|