GM10668
LCL from B-Lymphocyte
Description:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Maturity-Onset Diabetes of the Young |
| Class |
Other Disorders of Known Biochemistry |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
123
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
HNF4A |
| Chromosomal Location |
20q12-q13.1 |
| Allelic Variant 1 |
600281.0001; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 |
| Identified Mutation |
GLN268TER; In the historic R-W pedigree in which Fajans (1989) defined type 1 maturity-onset diabetes of the young (MODY1; 125850), Yamagata et al. (1996) found a a C-to-T substitution in codon 268 of the TCF14 gene that generated a CAG-to-TAG (Q268X) nonsense mutation. Some subjects in the R-W pedigree had inherited the Q268X mutation but were not yet diabetic; in addition, there were subjects in the pedigree who had noninsulin-dependent diabetes mellitus but did not inherit the Q268X mutation or at-risk haplotype. In one case, NIDDM had been diagnosed at the age of 48 years, and the patient was hyperinsulinemic, indicating that this was probably late-onset NIDDM rather than MODY. The patient had 6 children, 1 of whom also had NIDDM; another child had impaired glucose tolerance, and all had only normal alleles at the TCF14 locus.
|
| Remarks |
Clinically unaffected son of GM07974; half brother (same mother) of GM07975; nondiagnostic GTT; donor subject has a C>T substitution at codon 268 in exon 7 of the HNF4A (TCF14) gene that results in a CAG>TAG nonsense mutation [Gln268Ter (Q268X)] |
| Petrovick MS, Boettcher T, Fremont-Smith P, Peragallo C, Ricke DO, Watkins J, Schwoebel E, Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies Forensic science international Genetics46:102234 2019 |
| PubMed ID: 32018060 |
| |
| Herman WH, Fajans SS, Smith MJ, Polonsky KS, Bell GI, Halter JB, Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4alpha/MODY1 gene. Diabetes46:1749-54 1997 |
| PubMed ID: 9356021 |
| |
| Herman WH, Fajans SS, Ortiz FJ, Smith MJ, Sturis J, Bell GI, Polonsky KS, Halter JB, Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree [published erratum appears in Diabetes 1994 Sep;43(9):1171] Diabetes43:40-6 1994 |
| PubMed ID: 8262315 |
| |
| Bell GI, Xiang KS, Newman MV, Wu SH, Wright LG, Fajans SS, Spielman RS, Cox NJ, Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci U S A88:1484-8 1991 |
| PubMed ID: 1899928 |
| |
| Fajans SS, Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev5:579-606 1989 |
| PubMed ID: 2689121 |
| |
| Fajans SS, Cloutier MC, Crowther RL, The Banting Memorial Lecture 1978. Clinical and etiologic heterogeneity of idiopathic diabetes mellitus. Diabetes27:1112-25 1978 |
| PubMed ID: 102555 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|