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GM50205 LCL from B-Lymphocyte

Description:

CRI-DU-CHAT SYNDROME
DERIVATIVE CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02

Affected:

Yes

Sex:

Female

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • 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
Ethnicity ITALIAN/GERMAN/IRISH
Family History N
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XX,der(5)del(5)(p15.3)dup(5)(p15.3p14).ish der(5)del(5)(p15.3)dup(5)(p15.3p14)(C84c11/T3-,D5S23/D5S721++,EGR1+,D5S2907+).arr 5p15.33p15.31(68520-6190451)x1,5p15.31p14.3(6191166-21481804)x3
Species Homo sapiens
Common Name Human
Remarks Mild developmental delay; mild neonatal hyperbilirubinemia; high-pitched cry at birth; left esotropia partially corrected by surgery; normal growth and head size; long philtrum; thin upper lip; tone and tendon reflexes are normal

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 

Phenotypic Data

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Remarks Mild developmental delay; mild neonatal hyperbilirubinemia; high-pitched cry at birth; left esotropia partially corrected by surgery; normal growth and head size; long philtrum; thin upper lip; tone and tendon reflexes are normal

Publications

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Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021
PubMed ID: 35039224
 
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
 
Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J, Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet86(3):264-8 1999
PubMed ID: 10482877

External Links

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NCBI GTR 123450 CRI-DU-CHAT SYNDROME
OMIM 123450 CRI-DU-CHAT SYNDROME
Omim Description CAT CRY SYNDROME
  CRI-DU-CHAT SYNDROME

Images

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View FISH Spectrum Green - 5pter C84C11/T3, Spectrum Orange - 5qter D5S2907
FISH Spectrum Green - 5pter C84C11/T3, Spectrum Orange - 5qter D5S2907
FISH Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2)
FISH Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2)
karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2)
karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2)
karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2)
karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2)
MicroArray Chromosome 5
MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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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