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NA05319 DNA from Fibroblast

Description:

DERIVATIVE CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

24 FW (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
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 Karyotypic analysis after cell line submission to CCR
ISCN 47,XX,+der(9)t(9;13)(q31;q31)mat.arr 1q31.3(195010746-195168376)x1,9p24.3q31.1(36586-103756803)x3,13q31.3q34(92627371-114126487)x3
Species Homo sapiens
Common Name Human
Remarks This cell culture may have unstable karyotype upon expansion (loss of der9); Mother with balanced translocation is GM07456 (Lymphoid);

Characterizations

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Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (+)13q32>13qter
Chromosome 13: DERIVATIVE CHROMOSOME Trisomic Segment 13q32>13qter
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9q31
Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9q31

Phenotypic Data

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Remarks This cell culture may have unstable karyotype upon expansion (loss of der9); Mother with balanced translocation is GM07456 (Lymphoid);

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
 
Suri, Gene dosage studies confirm a minute translocation. Am J Hum Genet36:114S (1984):1143-9 1984
PubMed ID: 23665875
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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