NA06097
DNA from Fibroblast
Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XX,del(17)(:p13->qter).ish del(17)(pter->p13.3::p13.1->qter)(VIJy2185-,17ptel180+,LISI-,FLI+,17qtel13+)
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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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| PDL at Freeze |
6 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-).ish del(17)(pter->p13.3::p13.1->qter) |
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Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
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Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7pter>7p22 |
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Chromosome 7: DERIVATIVE CHROMOSOME Trisomic Segment 7pter>7p22 |
| Remarks |
Clinically affected; typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia, microcephaly, high arched palate); ventricular septal defect; cell line initially noted additional diagnosis of a translocated chromosome, as it was submitted with the following karyotype: 46,XX,-17,+der(17),t(7;17)(p22.3;p13.2)pat; upon further analysis of several passages with advanced cytogenomic techniques, it was confirmed the translocation was not present in the cell line and this diagnosis has been subsequently removed. |
| Mahendran G, Breger K, McCown PJ, Hulewicz JP, Bhandari T, Addepalli B, Brown JA, Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome Molecular neurobiology: 2025 |
| PubMed ID: 39508990 |
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| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
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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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