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GM21698 LCL from B-Lymphocyte

Description:

CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL

Affected:

No Data

Sex:

Male

Age:

15 YR (At Sampling)

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

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 Karyotypic analysis before cell line submission to CCR
ISCN 46,XY,del(6)(q26).ish del(6)(q26)(wcp6+,D62522-).arr 6q26q27(162860228-170761408)x1
Species Homo sapiens
Common Name Human
Remarks Poor sucking, excessive drooling and difficulty swallowing were present in the neonatal period; developmental delay; epilepsy began at age 18 months with atonic attacks accompanied by cyanosis and rapidly followed by vomitting, without loss of consciousness; short neck; low frontal hairline; abnormal hair pattern; flat nasal bridge; hypertelorism; asymmetric face; short palpebral fissures; micrognathia; high arched palate; posteriorly rotated ears with hypertrophy of the antihelices; hypospadias; phimosis; hypotonia; hyperextensible joints; strabismus; hypermetropia; moderate mental retardation; hyperactivity; brain MRI showed colpocephaly, hypoplasia of the splenium of the corpus callosum, hypoplasia of the pons, and mild hypertrophy of the massa intermedia

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
CNVPANEL For more information click here:CNVPANEL01
 
Cytogenetics Chromosome 6: DELETION Aneuploid Segment (-)6q26>6qter

Phenotypic Data

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Remarks Poor sucking, excessive drooling and difficulty swallowing were present in the neonatal period; developmental delay; epilepsy began at age 18 months with atonic attacks accompanied by cyanosis and rapidly followed by vomitting, without loss of consciousness; short neck; low frontal hairline; abnormal hair pattern; flat nasal bridge; hypertelorism; asymmetric face; short palpebral fissures; micrognathia; high arched palate; posteriorly rotated ears with hypertrophy of the antihelices; hypospadias; phimosis; hypotonia; hyperextensible joints; strabismus; hypermetropia; moderate mental retardation; hyperactivity; brain MRI showed colpocephaly, hypoplasia of the splenium of the corpus callosum, hypoplasia of the pons, and mild hypertrophy of the massa intermedia

Publications

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Biricik A, Cotroneo E, Minasi MG, Greco PF, Bono S, Surdo M, Lecciso F, Sessa M, Fiorentino F, Spinella F, Greco E, Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model Life (Basel, Switzerland)11: 2021
PubMed ID: 33921258
 
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
 
Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F, 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases Epilepsia47:830-8 2006
PubMed ID: 16686647

Images

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View FISH Fish 4
karyotype met5
karyotype met8

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