GM07945
LCL from B-Lymphocyte
Description:
ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| 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
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,del(20)(pter>q13.1::q13.3>qter).ish del(20)(20QTEL14+).arr cgh 20q13.1q13.3(CN_874692,SNP_A_2089662)x1
|
|
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 and by Chromosome Analysis |
| |
| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4 |
| |
| CNVPANEL |
For more information click here:CNVPANEL01 |
| |
| Cytogenetics |
Chromosome 20: DELETION Aneuploid Segment (-)20q13>20qter |
|
Chromosome 20: DELETION Breakpoint 20q13.1 |
| Remarks |
Clinically affected; karyotype is 46,XY,del(20)(pter>q13.1:); deficient ADA activity in RBC, fibroblasts, and lymphoblast culture; failure to thrive; grand mal seizures; mental retardation; upward slanting palpebral fissures; hypoplastic nasal bridge; bulbous nose; long philtrum; microretrognathia; aplasia of middle phalanx of fingers and toes. |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Fraisse J, Bertheas MF, Frere F, Lauras B, Rolland MO, Brizard CP, [Partial monosomy 20q: a new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132 (author's transl)] Ann Genet24:216-9 1981 |
| PubMed ID: 6977300 |
| |
| Philip T, Lenoir G, Rolland MO, Philip I, Hamet M, Lauras B, Fraisse J, Regional assignment of the ADA locus on 20q13.2 leads to qter by gene dosage studies. Cytogenet Cell Genet27:187-9 1980 |
| PubMed ID: 7398372 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
|