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GM02436 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity SWISS
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; Swiss; deceased; deficient ADA activity in fibroblasts; donor subject has one allele that has a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216[Gly216Arg(G216R)]; mother is GM02435 and father is GM02447.

Characterizations

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Passage Frozen 5
 
adenosine deaminase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4
 
Gene ADA
Chromosomal Location 20q13.11
Allelic Variant 1 608958.0016; SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
Identified Mutation GLY216ARG; In a patient, GM11411, with very severe combined immunodeficiency, Hirschhorn et al. [Am J Hum Genet 49: 878 (1991)] identified a transition of G-646 to A at a CG dinucleotide, predicting a glycine-to-arginine substitution at codon 216 of the ADA protein.The patient was homozygous, the offspring of consanguineous Amish parents from eastern Pennsylvania. Onset of symptoms was at 3 days of age with respiratory distress from pneumonia unresponsive to antibiotics.

Phenotypic Data

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Remarks Clinically affected; Swiss; deceased; deficient ADA activity in fibroblasts; donor subject has one allele that has a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216[Gly216Arg(G216R)]; mother is GM02435 and father is GM02447.

Publications

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Hirschhorn R, Ellenbogen A, Tzall SHirschhorn, Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID). Am J Hum Genet42:201-7 1992
PubMed ID: 1346349
 
Hirschhorn R, Chakravarti V, Puck J, Douglas SD, Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am J Hum Genet49:878-85 1991
PubMed ID: 1680289
 
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
 
Daddona PE, Frohman MA, Kelley WN, Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains. J Biol Chem255:5681-7 1980
PubMed ID: 7380831

External Links

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dbSNP dbSNP ID: 10518
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

Images

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View pedigree 

Culture Protocols

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Passage Frozen 5
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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