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GM11516 LCL from B-Lymphocyte

Description:

ANGELMAN SYNDROME; AS
CHROMOSOME DELETION

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 Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XX.ish del(15)(q11.2q13)(D15Z1+,D15S10-,PML+).arr 15q11.2q13.1(19803357-26872582)x1
Species Homo sapiens
Common Name Human
Remarks Ataxic movements; inappropriate laughter; neonatal hypotonia; fair-skinned and blond; no speech; decreased muscle tone; flattened occiput; prominent jaw

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 15: DELETION Aneuploid Segment (-)15q11>15q13

Phenotypic Data

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Remarks Ataxic movements; inappropriate laughter; neonatal hypotonia; fair-skinned and blond; no speech; decreased muscle tone; flattened occiput; prominent jaw

Publications

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Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023
PubMed ID: 38201393
 
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
 
Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH, Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet33(12):1011-4 1996
PubMed ID: 9004133
 
Knoll JH, Nicholls RD, Magenis RE, Glatt K, Graham JM Jr, Kaplan L, Lalande M, Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet47:149-55 1990
PubMed ID: 1971993
 
Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA, Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet32:285-90 1989
PubMed ID: 2564739

External Links

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dbSNP dbSNP ID: 22206
NCBI Gene Gene ID:282
NCBI GTR 105830 ANGELMAN SYNDROME; AS
OMIM 105830 ANGELMAN SYNDROME; AS
Omim Description ANGELMAN SYNDROME CHROMOSOME REGION; ANCR
  ANGELMAN SYNDROME; AS
  HAPPY PUPPET SYNDROME

Images

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View copy number variation 
copy number variation 

Culture Protocols

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Split Ratio 1:2
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
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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How to Order
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