Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
|
Repository
|
No Data
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
|
License Required
|
No Data
|
| Class |
Disorders of the Nervous System |
|
Sample Source
|
No Data
|
|
Subject Type
|
No Data
|
|
Family Type
|
No Data
|
|
Ethnicity
|
No Data
|
|
Family Member
|
No Data
|
|
Genetic Data
|
No Data
|
| PDL at Freeze |
6 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-).ish del(17)(pter->p13.3::p13.1->qter) |
|
Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
|
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7pter>7p22 |
|
Chromosome 7: DERIVATIVE CHROMOSOME Trisomic Segment 7pter>7p22 |
| 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 |
| |
| 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 |
| |
| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|