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GM07974 LCL from B-Lymphocyte

Description:

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

Affected:

Yes

Sex:

Female

Age:

31 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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
Country of Origin USA
Family Member 15
Family History Y
Relation to Proband niece
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clnically affected with MODY; impaired glucose tolerance test at age 15; diabetic glucose tolerance test at age 17; treated with diet alone; 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)]; donor subject also has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 [Thr130Ile (T130I)]; mother of GM07975; daughter of GM07973 & GM01246; extended pedigree available in PMID:102555.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
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.

Phenotypic Data

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Remarks Clnically affected with MODY; impaired glucose tolerance test at age 15; diabetic glucose tolerance test at age 17; treated with diet alone; 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)]; donor subject also has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 [Thr130Ile (T130I)]; mother of GM07975; daughter of GM07973 & GM01246; extended pedigree available in PMID:102555.

Publications

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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
 
Ting CN, Burgess DL, Chamberlain JS, Keith TP, Falls K, Meisler MH, Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20. Genomics16:698-706 1993
PubMed ID: 8325643
 
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

External Links

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dbSNP dbSNP ID: 11075
Gene Cards HNF4A
Gene Ontology GO:0003700 transcription factor activity
GO:0003702 RNA polymerase II transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0005496 steroid binding
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0006357 regulation of transcription from Pol II promoter
GO:0006629 lipid metabolism
GO:0007596 blood coagulation
NCBI Gene Gene ID:3172
NCBI GTR 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1
600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
OMIM 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1
600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
Omim Description DIABETES MELLITUS, AUTOSOMAL DOMINANT
  MASON-TYPE DIABETES
  MATURITY-ONSET DIABETES OF THE YOUNG; MODY
  MILD JUVENILE DIABETES MELLITUS
  MODY, TYPE I; MODY1

Culture Protocols

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Split Ratio 1:2
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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