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GM03356 LCL from B-Lymphocyte

Description:

DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM

Affected:

No

Sex:

Male

Age:

53 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
Class Other Disorders of Known Biochemistry
Alternate IDs GM18011 [DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM]
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 10
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Non-diabetic; HLA type A2,Bw16/A10,Bw16; 4 affected children; see GM01877 Fibro

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
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 Non-diabetic; HLA type A2,Bw16/A10,Bw16; 4 affected children; see GM01877 Fibro

Publications

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Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004
PubMed ID: 15782172
 
Buck D, Greene AE, Coriell LL, Mulivor RA, Juvenile onset diabetes. Cytogenet Cell Genet28:213-6 1980
PubMed ID: 7438795

External Links

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dbSNP dbSNP ID: 10645
NCBI Gene Gene ID:7924
NCBI GTR 222100 TYPE 1 DIABETES MELLITUS; T1D
OMIM 222100 TYPE 1 DIABETES MELLITUS; T1D
Omim Description DIABETES MELLITUS, INSULIN-DEPENDENT, 1
  DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM
  DIABETES MELLITUS, TYPE I
  INSULIN-DEPENDENT DIABETES MELLITUS 1; IDDM1
  JUVENILE-ONSET DIABETES; JOD

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 10% 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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