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NA10382 DNA from Fibroblast

Description:

DIGEORGE SYNDROME; DGS
CHROMOSOME DELETION

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Other Disorders of Known Biochemistry
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
ISCN 46,XY.arr[hg19]1q42.13(227047013-227285131)x1,22q11.21(18876415-21465835)x1
Species Homo sapiens
Common Name Human
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

Characterizations

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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

Phenotypic Data

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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

Publications

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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
 
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

External Links

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dbSNP dbSNP ID: 18502
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

Images

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View copy number variation 
copy number variation 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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