NA07985
DNA from Fibroblast
Description:
HOLOPROSENCEPHALY 4; HPE4
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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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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45,XX,der(18;21)(q11.1;p11.1).arr 18p11.32p11.21(1542-15391751)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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| Passage Frozen |
3 |
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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 |
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| Cytogenetics |
Chromosome 18: DERIVATIVE CHROMOSOME Aneuploid Segment (-)18pter>18p11 |
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Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21q11 |
| Remarks |
Stillborn; holoprosencephaly; hydrocephalus; mid-facial dysplasia; hypopituitarism; akinesia; t(18;21) is NOR negative |
| 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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