Description:
HOLOPROSENCEPHALY 4; HPE4
ISOCHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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ISCN
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46,XY,i(18)(q11.1).ish i(18)(q11.1)(D18Z1+,18qtel11++).arr 4q31.22(145061541-145163047)x1,18p11.32p11.21(1542-15391751)x1,18q11.1q23(16795644-76116029)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| Remarks |
Line JL182; stillborn male of 32 fetal weeks gestational age; multiple hemorrhages in the right lung, liver, kidneys, and eye tissues; holoprosencephaly; cyclopia; pituitary and adrenal agenesis; clubbed feet; parental line of hybrid GM50079 |
| Nikiforov D, Junping C, Cadenas J, Shukla V, Blanshard R, Pors SE, Kristensen SG, Macklon KT, Colmorn L, Ernst E, Bay-Bjørn AM, Ghezelayagh Z, Wakimoto Y, Grøndahl ML, Hoffmann E, Andersen CY, Improving the maturation rate of human oocytes collected ex vivo during the cryopreservation of ovarian tissue Journal of assisted reproduction and genetics: 2019 |
| PubMed ID: 32096110 |
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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 |
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| Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M, Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet57(5):1080-5 1995 |
| PubMed ID: 7485158 |
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| Mewar R, Harrison W, Overhauser J, Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization. Cytogenet Cell Genet64(1):1-4 1993 |
| PubMed ID: 8508672 |
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