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GM10072 LCL from B-Lymphocyte

Description:

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1

Affected:

No

Sex:

Male

Age:

46 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
Alternate IDs GM18048 [MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1]
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 90
Relation to Proband brother-in-law
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected spouse of GM01240A

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
 

Phenotypic Data

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Remarks Clinically unaffected spouse of GM01240A

Publications

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Leonard JC, Mullinger AM, Schmidt J, Cordell HJ, Johnson RT, Genome instability in ataxia telangiectasia (A-T) families: camptothecin-induced damage to replicating DNA discriminates between obligate A-T heterozygotes, A-T homozygotes and controls. Biosci Rep24(6):617-29 2004
PubMed ID: 16158199
 
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: 16988
NCBI GTR 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1
OMIM 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1
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 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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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