Description:
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
ADENOSINE DEAMINASE; ADA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| 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 |
608958.0002; 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. |
| |
| 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 |
| |
| 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 |
|
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 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
- |
|