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GM07215 Fibroblast

Description:

DIGEORGE SYNDROME; DGS

Affected:

Yes

Sex:

Female

Age:

3 DA (At Sampling)

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

Overview

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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 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

Characterizations

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PDL at Freeze 4.6
Passage Frozen 9
 
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
 
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.
 
Cytogenetics Chromosome 22: DELETION Aneuploid Segment (-)22q11>22q11

Phenotypic Data

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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

Publications

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Pane LS, Fulcoli FG, Cirino A, Altomonte A, Ferrentino R, Bilio M, Baldini A, Tbx1 represses Disease models & mechanisms11: 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

External Links

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dbSNP dbSNP ID: 10943
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 

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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