NA04395
DNA from Fibroblast
Description:
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
ADENOSINE DEAMINASE; ADA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 14% activity. |
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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 4% activity. |
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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 0% activity. |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 1 |
608958.0013; SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
| Identified Mutation |
LEU107PRO; In GM07103 and GM04396, both cell lines from compound heterozygous patients, Hirschhorn et al. [Proc Natl Acad Sci U S A 87: 6171 (1990)] found a substitution of proline for leucine at amino acid 107 resulting from a T-to-C transition in nucleotide 320 in exon 4. |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 2 |
608958.0014; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
ARG211CYS; In cell line GM04396, from a compound heterozygous patient, Hirschhorn et al. [Proc Natl Acad Sci U S A 87: 6171 (1990)] found substitution of cysteine for arginine at amino acid 211 resulting from a C-to-T transition of nucleotide 631. |
| Remarks |
Phenotypically normal; erythrocyte ADA deficiency diagnosed as part of a newborn screening program; transient diaper rash and oral thrush in first months of life; in first 2 years of life had a few colds and several episodes of otitis media; normal development with height and weight at 90th percentile; total lymphocyte counts were normal with 70% T cells on repeated determinations; delayed hypersensitivity to Candida albicans and mumps was present; responses of peripheral lymphocytes to PHA and allogeneic cells were normal; immunoglobulin levels rose appropriately with age; radiographs of chest, skull, and pelvis were normal; ADA activity in erythrocytes is undetectable; ADA enzyme activity in peripheral lymphocytes is 0.9% of control values with an immunoreactive ADA protein present at 1.6% of normal CRM; ADA activity and immunoreactive protein in lymphoblast culture detectable at 4% of control; ADA activity in fibroblasts detectable at 14% of control; dATP in RBC's is elevated; parents and brother have heterozygous levels of ADA activity; donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 320 in exon 4 of the ADA gene [320T>C] resulting in a substitution of proline for leucine at codon 107 [Leu107Pro (L107P)] and a second allele has a C>T transition at nucleotide 631 of the ADA gene [631C>T] resulting in a substitution of cysteine for arginine at codon 211 [Arg211Cys (R211C)]; same donor as GM04396 lymphocyte. |
| Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983 |
| PubMed ID: 6603477 |
| dbSNP |
dbSNP ID: 14391 |
| Gene Cards |
ADA |
| Gene Ontology |
GO:0004000 adenosine deaminase activity |
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GO:0009117 nucleotide metabolism |
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GO:0009168 purine ribonucleoside monophosphate biosynthesis |
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GO:0016787 hydrolase activity |
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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 |
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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 |
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608958 ADENOSINE DEAMINASE; ADA |
| Omim Description |
ADA-SCID, INCLUDED |
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ADENOSINE AMINOHYDROLASESEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY,INCLUDED |
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ADENOSINE DEAMINASE; ADA |
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SCID DUE TO ADA DEFICIENCY, INCLUDED |
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