Description:
DIGEORGE SYNDROME; DGS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
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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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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY.arr[hg19]1q42.13(227047013-227285131)x1,22q11.21(18876415-21465835)x1
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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 |
6.04 |
| Passage Frozen |
6 |
| |
| 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; truncus arteriosus, Type I; ventricular septal defect; right sided aortic arch; hypocalcemia; thymic and parathyroid hypoplasia at autopsy; hypertelorism; low-set ears; parents are GM10383 and GM10384; parents have normal karyotypes; passage 3 at CCR |
| 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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| Sharkey AM, McLaren L, Carroll M, Fantes J, Green D, Wilson D, Scambler PJ, Evans HJ, Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome. Hum Genet89:73-8 1992 |
| PubMed ID: 1577468 |
| |
| Greenberg F, Elder FF, Haffner P, Northrup H, Ledbetter DH, Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet43:605-11 1988 |
| PubMed ID: 3189331 |
| dbSNP |
dbSNP ID: 18502 |
| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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