GM07103
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
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
|
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
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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; 16% activity. |
| |
| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 0% 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. |
| |
| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 2 |
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. |
| Remarks |
Phenotypically normal; partial ADA deficiency; normal growth & development at 6 weeks of age; normal immunologic tests; absent RBC ADA activity; 50% of normal lymphocyte ADA activity; 16% of normal ADA activity in lymphoblasts; donor subject is a compound heterozygote: one allele 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)] and a second 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)]; mother is GM07104. |
| 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, 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 |
| dbSNP |
dbSNP ID: 21496 |
| 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|
|