GM04347
LCL from B-Lymphocyte
Description:
INVERTED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
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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
|
|
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 |
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Chromosome 15: INVERSION Aneuploid Segment (+)15pter>15q11 |
|
Chromosome 15: INVERSION Trisomic Segment 15pter>15q11 |
Remarks |
Phenotypically normal |
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 |
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 |
- |
|
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