Description:
TURNER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
45,X[18].arr(X)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
4.51 |
Passage Frozen |
4 |
|
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 |
|
Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR, Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease Clinical chemistry52:1267-75 2006 |
PubMed ID: 16644873 |
|
Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE, Detection of aneuploidies by paralogous sequence quantification Journal of medical genetics41:908-15 2004 |
PubMed ID: 15591276 |
|
Zacksenhaus E, Sheinin R, Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. EMBO J9:2923-9 1990 |
PubMed ID: 2390975 |
|
Zacksenhaus E, Sheinin R, Molecular cloning of human A1S9 locus: an X-linked gene essential for progression through S phase of the cell cycle. Somat Cell Mol Genet15:545-53 1989 |
PubMed ID: 2595454 |
Passage Frozen |
4 |
Split Ratio |
1:6 |
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 |
- |
|
|