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GM07939 LCL from B-Lymphocyte

Description:

VELOCARDIOFACIAL SYNDROME
CHROMOSOME DELETION

Affected:

Yes

Sex:

Male

Age:

3 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
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
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
ISCN 46,XY,del(22)(pter>q11.21::q11.22>qter).ish del(22)(TUPLE1-,ARSA+)
Species Homo sapiens
Common Name Human
Remarks Clinically affected; truncus arteriosus; ventricular septal defect; hypocalcemia; hypoparathyroidism; absence of thymic shadow; partial defect of T-lymphocyte function; two supernumerary digits of the upper extremity; micropenis; hypertelorism; low-set ears; micrognathia; cleft palate; older brother died at 3 months of age and was affected with truncus arteriosus, hypoparathyroidism, lack of thymic shadow, and dysmorphism; father has hypertelorism, micrognathia, low-set ears, relative deficiency of T-lymphocytes, and relative hypoparathyroidism.

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
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 22 FISH analysis with probe N25 for the DiGeorge Syndrome critical region, D22S75, performed by Dr. Deborah Driscoll, Children's Hospital of Philadelphia, showed that this cell culture had a deletion in this region.
 

Phenotypic Data

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Remarks Clinically affected; truncus arteriosus; ventricular septal defect; hypocalcemia; hypoparathyroidism; absence of thymic shadow; partial defect of T-lymphocyte function; two supernumerary digits of the upper extremity; micropenis; hypertelorism; low-set ears; micrognathia; cleft palate; older brother died at 3 months of age and was affected with truncus arteriosus, hypoparathyroidism, lack of thymic shadow, and dysmorphism; father has hypertelorism, micrognathia, low-set ears, relative deficiency of T-lymphocytes, and relative hypoparathyroidism.

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
 
Mantripragada KK, Tapia-Páez I, Blennow E, Nilsson P, Wedell A, Dumanski JP, DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets International journal of molecular medicine13:273-9 2004
PubMed ID: 14719134
 
Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ, Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet2:191-6 1993
PubMed ID: 8499906
 
Driscoll DA, Budarf ML, Emanuel BS, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet50:924-33 1992
PubMed ID: 1349199
 
Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J, Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet339:1138-9 1992
PubMed ID: 1349369
 
Sharkey AM, McLaren L, Carroll M, Fantes J, Green D, Wilson D, Scambler PJ, Evans HJ, Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome. Hum Genet89:73-8 1992
PubMed ID: 1577468
 
Stevens CA, Carey JC, Shigeoka AO, Di George anomaly and velocardiofacial syndrome. Pediatrics85:526-30 1990
PubMed ID: 2314965
 
Rohn RD, Leffell MS, Leadem P, Johnson D, Rubio T, Emanuel BS, Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. J Pediatr105:47-51 1984
PubMed ID: 6737148

External Links

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dbSNP dbSNP ID: 11071
NCBI GTR 192430 VELOCARDIOFACIAL SYNDROME; VCFS
OMIM 192430 VELOCARDIOFACIAL SYNDROME; VCFS
Omim Description SHPRINTZEN VCF SYNDROME
  VCF SYNDROME; VCFS
  VELOCARDIOFACIAL SYNDROME

Culture Protocols

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Split Ratio 1:5
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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