Description:
HOLOPROSENCEPHALY 4; HPE4
CHROMOSOME DELETION
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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,XX,del(18)(p11.2).ish del(18)(p11.2)(VIJ2yRM2102-).arr 18p11.32p11.21(1542-15262486)x1
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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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| Cytogenetics |
Chromosome 18: DELETION Aneuploid Segment (-)18pter>18p11 |
| Remarks |
Line JL278; severe form of alobar holoprosencephaly with typical CNS and facial findings; did not survive beyond neonatal period; parental line of hybrid GM50094 |
| 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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