Description:
DIGEORGE SYNDROME; DGS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.6 |
| Passage Frozen |
9 |
| |
| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 22 |
FISH analysis with probe N25 for the DiGeorge Syndrome critical region, D22S75, performed by Dr. Deborah Driscoll, Children's Hospital of Philadelphia, showed that this cell culture had a deletion in this region. |
| |
| 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 |
| |
| Cytogenetics |
Chromosome 22: DELETION Aneuploid Segment (-)22q11>22q11 |
| Remarks |
Clinically affected; interrupted aortic arch; atrial septal defect; ventricular septal defect; thymic aplasia (radiographic); del(15) confirmed by FISH with probe N25 to the DGS critical region locus D22S75 |
| Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ, Thalamocortical organoids enable in vitro modeling of 22q112 microdeletion associated with neuropsychiatric disorders Cell stem cell31:421-432.e8 2024 |
| PubMed ID: 38382530 |
| |
| Pane LS, Fulcoli FG, Cirino A, Altomonte A, Ferrentino R, Bilio M, Baldini A, Tbx1 represses Disease models & mechanisms11:421-432.e8 2017 |
| PubMed ID: 30166330 |
| |
| 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 |
| |
| Driscoll DA, Budarf ML, Emanuel BS, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet50:924-33 1992 |
| PubMed ID: 1349199 |
| NCBI Gene |
Gene ID:1714 |
| NCBI GTR |
188400 DIGEORGE SYNDROME; DGS |
| OMIM |
188400 DIGEORGE SYNDROME; DGS |
| Omim Description |
CATCH22, INCLUDED |
| |
CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED |
| |
DIGEORGE SYNDROME; DGS |
| |
HYPOPLASIA OF THYMUS AND PARATHYROIDS |
| |
SHPRINTZEN VCF SYNDROME, INCLUDED |
| |
TAKAO VCF SYNDROME, INCLUDED |
| |
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED |
| |
VELOCARDIOFACIAL SYNDROME, INCLUDED |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|