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GM06143 LCL from B-Lymphocyte

Description:

SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
ADENOSINE DEAMINASE; ADA

Affected:

No

Sex:

Male

Age:

9 MO (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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity SANTO DOMINGAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Phenotypically normal; Santo Domingan; partial ADA deficiency; several intermittent infections; normal growth and development; <1% normal ADA activity in RBCs; normal ADA activity in peripheral blood mononuclear cells; percentage of T cells normal; normal response to mitogens; 86% of normal ADA activity in lymphoblasts; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 446 in exon 5 of the ADA gene [446G>A] resulting in a substitution of glutamine for arginine at codon 149 [Arg149Gln (R149Q)] and a second allele has a C>A transversion in exon 10 of the ADA gene resulting in a substitution of glutamine for proline at codon 297 [Pro297Gln (P297Q)]; affected sibling; parents are GM06415 and GM06416.

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
 
adenosine deaminase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 86% activity.
 
adenosine deaminase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; <1% activity.
 
Gene ADA
Chromosomal Location 20q13.11
Allelic Variant 1 608958.0011; ADA DEFICIENCY, PARTIAL
Identified Mutation ARG149GLN; In cell line GM06143A, Hirschhorn et al. [Proc Natl Acad Sci U S A 87: 6171 (1990)] found a substitution of glutamine for arginine at amino acid 149 resulting from a G-to-A transition at nucleotide 446.
 
Gene ADA
Chromosomal Location 20q13.11
Allelic Variant 2 608958.0009; ADA DEFICIENCY, PARTIAL
Identified Mutation PRO297GLN; In a partially ADA-deficient child from Santo Domingo, Hirschhorn et al. (1989) demonstrated a C-to-A transversion that resulted in the replacement of a proline by a glutamine residue at codon 297. Since this mutation generated a new recognition site in exon 10 of genomic DNA for the enzyme AluI, Hirschhorn et al. (1989) could use Southern blot analysis to establish that this child was homozygous for the mutation and that the same mutation was present in another patient. The point mutation resulted in heat-lability of the enzyme.

Phenotypic Data

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Remarks Phenotypically normal; Santo Domingan; partial ADA deficiency; several intermittent infections; normal growth and development; <1% normal ADA activity in RBCs; normal ADA activity in peripheral blood mononuclear cells; percentage of T cells normal; normal response to mitogens; 86% of normal ADA activity in lymphoblasts; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 446 in exon 5 of the ADA gene [446G>A] resulting in a substitution of glutamine for arginine at codon 149 [Arg149Gln (R149Q)] and a second allele has a C>A transversion in exon 10 of the ADA gene resulting in a substitution of glutamine for proline at codon 297 [Pro297Gln (P297Q)]; affected sibling; parents are GM06415 and GM06416.

Publications

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Hirschhorn R, Tzall S, Ellenbogen A, Hot spot mutations in adenosine deaminase deficiency. Proc Natl Acad Sci U S A87:6171-5 1990
PubMed ID: 2166947
 
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
 
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

External Links

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dbSNP dbSNP ID: 16523
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%
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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