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GM10384 LCL from B-Lymphocyte

Description:

DIGEORGE SYNDROME; DGS

Affected:

No

Sex:

Female

Age:

20 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 Other Disorders of Known Biochemistry
Alternate IDs GM17293 [DIGEORGE SYNDROME; DGS]
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 3
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Son (GM10382A Fibroblast) has 46,XY,del (22) & DiGeorge syndrome; clinically normal spouse of GM10383; 46,XX in PBL

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
 

Phenotypic Data

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Remarks Son (GM10382A Fibroblast) has 46,XY,del (22) & DiGeorge syndrome; clinically normal spouse of GM10383; 46,XX in PBL

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
 
Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005
PubMed ID: 16421712
 
Greenberg F, Elder FF, Haffner P, Northrup H, Ledbetter DH, Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet43:605-11 1988
PubMed ID: 3189331

External Links

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dbSNP dbSNP ID: 11373
NCBI Gene Gene ID:1714
NCBI GTR 188400 DIGEORGE SYNDROME; DGS
OMIM 188400 DIGEORGE SYNDROME; DGS
Omim Description CATCH22, INCLUDED
  CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED
  DIGEORGE SYNDROME; DGS
  HYPOPLASIA OF THYMUS AND PARATHYROIDS
  SHPRINTZEN VCF SYNDROME, INCLUDED
  TAKAO VCF SYNDROME, INCLUDED
  THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
  VELOCARDIOFACIAL SYNDROME, INCLUDED

Culture Protocols

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Split Ratio 1:3
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
  • Ordering Instructions
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