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NA11493 DNA from LCL

Description:

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

Affected:

No

Sex:

Male

Age:

28 YR (At Sampling)

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

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
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family Member 144
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Normal glucose tolerance test; son of GM08106

Characterizations

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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 

Phenotypic Data

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Remarks Normal glucose tolerance test; son of GM08106

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
 
Shaw SY, Blodgett DM, Ma MS, Westly EC, Clemons PA, Subramanian A, Schreiber SL, Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes Proceedings of the National Academy of Sciences of the United States of America46:102234 2010
PubMed ID: 21183721
 
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

External Links

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dbSNP dbSNP ID: 11594
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
Pricing
Commercial/For-profit:
$281.00USD
Academic/Non-profit/Government:
$139.00USD
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