NA02605
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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Country of Origin
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USA
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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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Biochemical characterization after cell line submission to CCR
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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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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4 |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 1 |
608958.0002; SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
| Identified Mutation |
ARG101TRP; Akeson et al. [J Biol Chem 263:16291 (1988)] summarized the point mutations identified in ADA deficiency cases. They came from 5 different patients, each of whom proved to be a compound heterozygote. GM02606 was found to have change of arg101 to trp resulting from a change of CGG to TGG as well as substitution of his for arg211 (102700.0004) as a result of change of CGT to CAT. |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 2 |
608958.0004; SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
| Identified Mutation |
ARG211HIS; Akeson et al. [J Biol Chem 263:16291 (1988)] found this change, a 632G-A transition in the ADA gene, resulting in the replacement of the arginine residue by histidine at codon 211, in cell line GM02606 and Akeson et al. [Proc Natl Acad Sci U S A 84: 5947 (1987)] found it in cell line GM02756. |
| Remarks |
Clinically affected; deficient ADA activity in RBC's, lymphoid line, and fibroblasts; enzyme phenotypes: 6PGD=A, Pepitdases A,C, and D= 1; Acid A-glucosidase=1, Neutral A-glucosidase C=1; < 1% of normal ADA activity and CRM protein in lymph culture; normal ADA mRNA; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 396 in exon 4 of the ADA gene [396C>T] resulting in a substitution of tryptophan for arginine at codon 101 [Arg101Trp(R101W)] and a second allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene [727G>A (alternately described as 632G>A)] resulting in a substitution of histidine for arginine at codon 211 [Arg211His(R211H)]; same subject B-lymphocyte is GM02606; mother is GM02607(fibro)/GM02608 (lymph) and father is GM02609(fibro)/GM02610(lymph); same donor as GM02606 lymphocyte; clinical documentation and in-house testing via amelogenin and DYS227 PCR assays have identified this sample as female. |
| Zhong XZ1, Zou Y1, Sun X1,2, Dong G1, Cao Q1, Pandey A3, Rainey JK3,4, Zhu X2, Dong XP5., Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases. J Biol Chem.292(8):3445-3455 2017 |
| PubMed ID: 28087698 |
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| 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 |
| dbSNP |
dbSNP ID: 15907 |
| 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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