Description:
HOLOPROSENCEPHALY 4; HPE4
RING CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,r(18)(p11.31q23).ish r(18)(wcp18+).arr 18p11.32p11.31(1542-3995424)x1,18q23(72944842-76116029)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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| Remarks |
Line JL376; holoprosencephaly; developmental delay; microcephaly; facial features consisted of ocular hypoterlorism, flat nasal bridge, and single central maxillary incisor. Parental line of hybrid GM16583. |
| 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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