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NA03623 DNA from Fibroblast

Description:

ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18
ANEUPLOID CHROMOSOME NUMBER - TRISOMY

Affected:

No Data

Sex:

Female

Age:

No Data

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

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 Black/African American
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 48,XXX,+18[20]
Species Homo sapiens
Common Name Human
Remarks Clinical features of variant trisomy 18

Characterizations

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PDL at Freeze 4.46
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18qter
Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18qter
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter

Phenotypic Data

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Remarks Clinical features of variant trisomy 18

Publications

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Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020
PubMed ID: 34330281
 
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
 
Kinde I, Papadopoulos N, Kinzler KW, Vogelstein B, FAST-SeqS: a simple and efficient method for the detection of aneuploidy by massively parallel sequencing PloS one7:e41162 2012
PubMed ID: 22815955

External Links

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dbSNP dbSNP ID: 10680
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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