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GM04347 LCL from B-Lymphocyte

Description:

INVERTED CHROMOSOME

Affected:

No Data

Sex:

Female

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 Chromosome Abnormalities
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity JEWISH
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 47,XX,+idic(15)(pter>q11.2::q11.2> pter)
Species Homo sapiens
Common Name Human
Remarks Phenotypically normal

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: DUPLICATION Aneuploid Segment (+)15pter>15q11
Chromosome 15: DUPLICATION Trisomic Segment 15pter>15q11
Chromosome 15: INVERSION Aneuploid Segment (+)15pter>15q11
Chromosome 15: INVERSION Trisomic Segment 15pter>15q11

Phenotypic Data

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Remarks Phenotypically normal

Publications

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Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH, Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet99:11-7 1997
PubMed ID: 9003485
 
Cheng SD, Spinner NB, Zackai EH, Knoll JH, Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet55:753-9 1994
PubMed ID: 7942854
 
Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S, Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet54:748-56 1994
PubMed ID: 8178816
 
Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989
PubMed ID: 2568752
 
Tantravahi U, Nicholls RD, Stroh H, Ringer S, Neve RL, Kaplan L, Wharton R, Wurster-Hill D, Graham JM Jr, Cantu ES, et al, Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet33:78-87 1989
PubMed ID: 2750788
 
Stetten G, Sroka-Zaczek B, Corson VL, Prenatal detection of an accessory chromosome identified as an inversion duplication (15). Hum Genet57:357-9 1981
PubMed ID: 7286975
 
Stetten, Prenatal detection of an accessory chromosome. Am J Hum Genet32:89A (1980):357-9 1980
PubMed ID: 7286975

External Links

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dbSNP dbSNP ID: 14713

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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