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GM03043 LCL from B-Lymphocyte

Description:

ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
ADENOSINE DEAMINASE; ADA

Affected:

Yes

Sex:

Male

Age:

16 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 Disorders of Nucleotide and Nucleic Acid Metabolism
Alternate IDs GM17345 [ADENOSINE DEAMINASE DEFICIENCY, PARTIAL]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Black/African American
Ethnicity !KUNG
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Phenotypically normal; !Kung South African; marked deficiency of red cell adenosine deaminase; 2-3% enzyme activity in RBCs, 10-12% enzyme activity in leukocytes, and 10-30% enzyme activity in cultured fibroblasts; ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency; enzyme has ADA 1 electrophoretic mobility; normal humoral and cellular immunity; enzyme phenotypes: 6PGD=A, ADA=1, Neutral A-glucosidase C=2; contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA; donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene [698C>T (alternately described as 793C>T)] resulting in a substitution of isoleucine for threonine at codon 233 [Thr233Ile(T233I)]; same donor as GM03029 fibroblast.

Characterizations

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messenger RNA Adrian et al (Mol Cell Biol 4:1712-1717 1984) performed S1 endonuclease cleavage of ADA cDNA-mRNA hybrids to show that the ADA mRNA from this culture yielded fragments that were distinctly different from ADA mRNA fragments from normal controls. The ADA cDNA utilized for these experiments represented the complete mRNA sequence with the possible exception of some of the 5 prime untranslated region. Hirschhorn et al (J Clin Invest 71:1887-1892 1983) reported that the ADA activity for this cell culture overlapped the normal range of activity but showed a markedly diminished heat stability. The enzyme showed a normal electrophoretic mobility and a normal isoelectric point of 4.9.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
adenosine deaminase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 10-12% activity.
 
Gene ADA
Chromosomal Location 20q13.11
Allelic Variant 1 608958.0028; ADA DEFICIENCY, PARTIAL
Identified Mutation THR233ILE; In a healthy adult male of Afghanistani Kung descent, Hirschhorn et al. (1997) identified a homozygous 698C-T transition mutation of the ADA gene resulting in the amino acid change thr233ile. This mutation was found to have slightly greater enzymatic activity than the pathogenic mutation arg211cys (102700.0014). Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency.
 
Gene ADA
Chromosomal Location 20q13.11
Allelic Variant 2 608958.0028; ADA DEFICIENCY, PARTIAL
Identified Mutation THR233ILE; In a healthy adult male of Afghanistani Kung descent, Hirschhorn et al. (1997) identified a homozygous 698C-T transition mutation of the ADA gene resulting in the amino acid change thr233ile. This mutation was found to have slightly greater enzymatic activity than the pathogenic mutation arg211cys (102700.0014). Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency.

Phenotypic Data

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Remarks Phenotypically normal; !Kung South African; marked deficiency of red cell adenosine deaminase; 2-3% enzyme activity in RBCs, 10-12% enzyme activity in leukocytes, and 10-30% enzyme activity in cultured fibroblasts; ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency; enzyme has ADA 1 electrophoretic mobility; normal humoral and cellular immunity; enzyme phenotypes: 6PGD=A, ADA=1, Neutral A-glucosidase C=2; contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA; donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene [698C>T (alternately described as 793C>T)] resulting in a substitution of isoleucine for threonine at codon 233 [Thr233Ile(T233I)]; same donor as GM03029 fibroblast.

Publications

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Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005
PubMed ID: 16251457
 
Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S, High mutation rates have driven extensive structural polymorphism among human Y chromosomes Nature genetics38:463-7 2005
PubMed ID: 16501575
 
Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002
PubMed ID: 12196404
 
Tzall S, Ellenbogen A, Eng F, Hirschhorn R, Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus. Am J Hum Genet44:864-75 1989
PubMed ID: 2567118
 
Cann RL, Stoneking M, Wilson AC, Mitochondrial DNA and human evolution [see comments] Nature325:31-6 1987
PubMed ID: 3025745
 
Hirschhorn R, Ellenbogen A, Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency. Am J Hum Genet38:13-25 1986
PubMed ID: 3946419
 
Valerio D, Dekker BM, Duyvesteyn MG, van der Voorn L, Berkvens TM, van Ormondt H, van der Eb AJ, One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. EMBO J5:113-9 1986
PubMed ID: 3007108
 
Adrian GS, Wiginton DA, Hutton JJ, Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe. Hum Genet68:169-72 1984
PubMed ID: 6548726
 
Adrian GS, Wiginton DA, Hutton JJ, Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines. Mol Cell Biol4:1712-7 1984
PubMed ID: 6208479
 
Adrian GS, Hutton JJ, Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency. J Clin Invest71:1649-60 1983
PubMed ID: 6134754
 
Hirschhorn R, Martiniuk F, Roegner-Maniscalco V, Ellenbogen A, Perignon JL, Jenkins T, Genetic heterogeneity in partial adenosine deaminase deficiency. J Clin Invest71:1887-92 1983
PubMed ID: 6863546
 
Wiginton DA, Adrian GS, Friedman RL, Suttle DP, Hutton JJ, Cloning of cDNA sequences of human adenosine deaminase. Proc Natl Acad Sci U S A80:7481-5 1983
PubMed ID: 6200875
 
Wiginton DA, Hutton JJ, Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines. J Biol Chem257:3211-7 1982
PubMed ID: 6977542
 
Hirschhorn R, Roegner V, Jenkins T, Seaman C, Piomelli S, Borkowsky W, Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme. J Clin Invest64:1130-9 1979
PubMed ID: 479373

External Links

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dbSNP dbSNP ID: 10594
Gene Cards ADA
Gene Ontology GO:0004000 adenosine deaminase activity
GO:0009117 nucleotide metabolism
GO:0009168 purine ribonucleoside monophosphate biosynthesis
GO:0016787 hydrolase activity
GO:0019735 antimicrobial humoral response (sensu Vertebrata)
NCBI Gene Gene ID:100
NCBI GTR 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
608958 ADENOSINE DEAMINASE; ADA
OMIM 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
608958 ADENOSINE DEAMINASE; ADA
Omim Description ADA-SCID, INCLUDED
  ADENOSINE AMINOHYDROLASESEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY,INCLUDED
  ADENOSINE DEAMINASE; ADA
  SCID DUE TO ADA DEFICIENCY, INCLUDED

Culture Protocols

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Split Ratio 1:4
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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