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NA14120 DNA from LCL

Description:

CRI-DU-CHAT SYNDROME

Affected:

Yes

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
dbGaP
Class Disorders of Uncertain Biochemical Etiology
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Karyotypic analysis and In situ hybridization
ISCN 46,XX,del(5)(p13.3).ish del(5)(p15.33p13.3)(D5S23-).arr 5p15.33p13.3(68519-32164091)x1
Species Homo sapiens
Common Name Human
Remarks Line JL54 (human parent of hybrid cell line JH132)

Characterizations

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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
 
Cytogenetics Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p13

Phenotypic Data

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Remarks Line JL54 (human parent of hybrid cell line JH132)

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
 
Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ, Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet3:247-52 1994
PubMed ID: 8004090

External Links

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dbSNP dbSNP ID: 14660
NCBI GTR 123450 CRI-DU-CHAT SYNDROME
OMIM 123450 CRI-DU-CHAT SYNDROME
Omim Description CAT CRY SYNDROME
  CRI-DU-CHAT SYNDROME
Pricing
Commercial/For-profit:
$281.00USD
Academic/Non-profit/Government:
$139.00USD
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  • GM14120 - B-Lymphocyte
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