NA07215
DNA from Fibroblast
Description:
DIGEORGE SYNDROME; DGS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| 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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX[20]
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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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| PDL at Freeze |
4.6 |
| Passage Frozen |
9 |
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| 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 |
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| 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. |
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| 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 |
| Pane LS, Fulcoli FG, Cirino A, Altomonte A, Ferrentino R, Bilio M, Baldini A, Tbx1 represses Disease models & mechanisms11: 2017 |
| PubMed ID: 30166330 |
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| 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 |
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| 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 |
| dbSNP |
dbSNP ID: 10943 |
| NCBI Gene |
Gene ID:1714 |
| NCBI GTR |
188400 DIGEORGE SYNDROME; DGS |
| OMIM |
188400 DIGEORGE SYNDROME; DGS |
| Omim Description |
CATCH22, INCLUDED |
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CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED |
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DIGEORGE SYNDROME; DGS |
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HYPOPLASIA OF THYMUS AND PARATHYROIDS |
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SHPRINTZEN VCF SYNDROME, INCLUDED |
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TAKAO VCF SYNDROME, INCLUDED |
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THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED |
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VELOCARDIOFACIAL SYNDROME, INCLUDED |
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