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GM14171 LCL from B-Lymphocyte

Description:

WILLIAMS-BEUREN SYNDROME; WBS

Affected:

Yes

Sex:

Male

Age:

38 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
dbGaP
Class Disorders of Connective Tissue, Muscle, and Bone
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 Clinical summary/Case history
ISCN 46,XY.ish del(7)(q11.23q11.23)(ELN-).arr 7q11.23(72337519-73906337)x1
Species Homo sapiens
Common Name Human
Remarks Vomiting; constipation; short attention span; visuo-spatial problems; hyperverbal speech; motor delay; mitral valve prolapse with enlarged heart; abnormal gait; perfect pitch; preoccupation with spinning/rhythmic movements

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
 
ELASTIN CCR FISH analysis with a probe for the elastin gene at 7q11.23 showed one of the chromosomes 7 to be deleted for the elastin gene for this Williams syndrome subject.
 
Cytogenetics Chromosome 7: DELETION Aneuploid Segment (-)7q11>7q11

Phenotypic Data

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Remarks Vomiting; constipation; short attention span; visuo-spatial problems; hyperverbal speech; motor delay; mitral valve prolapse with enlarged heart; abnormal gait; perfect pitch; preoccupation with spinning/rhythmic movements

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024
 
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: 23183
NCBI GTR 194050 WILLIAMS-BEUREN SYNDROME; WBS
OMIM 194050 WILLIAMS-BEUREN SYNDROME; WBS
Omim Description ELFIN FACIES WITH HYPERCALCEMIA
  SUPRAVALVAR AORTIC STENOSIS, INCLUDED
  WILLIAMS SYNDROME; WMS; WSHYPERCALCEMIA, INFANTILE, INCLUDED
  WILLIAMS-BEUREN SYNDROME; WBS

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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