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GM14258 LCL from B-Lymphocyte

Description:

ANEUPLOID CHROMOSOME NUMBER - TRISOMY
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02

Affected:

No Data

Sex:

Male

Age:

14 YR (At Sampling)

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

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XY,+der(22)t(11;22)(q23.3;q11.2).ish der(22)t(11;22)(WCP11+,WCP22+).arr 11q23.3q25(116188703-134449982)x3,22q11.1q11.21(15244885-18853334)x3
Species Homo sapiens
Common Name Human
Remarks Severe mental retardation with no speech

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 22: DERIVATIVE CHROMOSOME Aneuploid Segment (+)22pter>22q11
Chromosome 22: DERIVATIVE CHROMOSOME Trisomic Segment 22pter>22q11

Phenotypic Data

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Remarks Severe mental retardation with no speech

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

External Links

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dbSNP dbSNP ID: 22994

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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