Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
RING CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of the Nervous System |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,r(17)(p13q25)[19]/47,XY,+8,r(17)(p13q25)[1]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.23 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia), umbilical hernia, sacral sinus tract, and cryptorchidism. |
| 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 |
| |
| 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 |
5 |
| Split Ratio |
1:2 |
| 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 |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|