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GM05817 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:

Female

Age:

24 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 GM17159 [SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY]
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 AFRICAN-AMERICAN
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; 50% of adenosine deaminase activity in RBCs; 50% of normal purine nucleoside phosphorylase activity; 91% of normal ADA activity in lymphoblasts; donor subject has one allele which has a C>T transition at nucleotide 226 in exon 4 of the ADA gene [226C>T] resulting in a substitution of tryptophan for arginine at codon 76 [Arg76Trp(R76W)]; affected child is GM05816.

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; 91% activity.
 
adenosine deaminase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 50% activity.
 
Gene ADA
Chromosomal Location 20q13.11
Allelic Variant 1 608958.0010; ADA DEFICIENCY, PARTIAL
Identified Mutation ARG76TRP; In cell lines GM05816, GM06200 and GM07103, Hirschhorn et al. [Proc Natl Acad Sci U S A 87: 6171 (1990)] found a C-to-T transition at nucleotide 226 resulting in a change of arginine-76 to tryptophan.

Phenotypic Data

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Remarks Clinically unaffected; 50% of adenosine deaminase activity in RBCs; 50% of normal purine nucleoside phosphorylase activity; 91% of normal ADA activity in lymphoblasts; donor subject has one allele which has a C>T transition at nucleotide 226 in exon 4 of the ADA gene [226C>T] resulting in a substitution of tryptophan for arginine at codon 76 [Arg76Trp(R76W)]; affected child is GM05816.

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: 10836
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 1:3
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
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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