Description:
TETRAPLOID CHROMOSOME NUMBER
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
92,XXYY.arr(1-22)x2,(XY)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.35 |
Passage Frozen |
12 |
|
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 |
|
Remarks |
Patient expired at two months of age; multiple congenital anomalies: unusual facies, cleft palate, congenital heart disease, and unusual foot abnormalities; macrocytic anemia, hypersegmented neutrophils, and megaloblastic changes in the marrow |
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 |
|
Moyzis RK, Albright KL, Bartholdi MF, Cram LS, Deaven LL, Hildebrand CE, Joste NE, Longmire JL, Meyne J, Schwarzacher-Robinson T, Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis. Chromosoma95:375-86 1987 |
PubMed ID: 3677921 |
|
Kukolich, Tetraploidy: a recognizable clinical syndrome. Am J Hum Genet35:101A (1983):375-86 1983 |
PubMed ID: 3677921 |
Passage Frozen |
12 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
Commercially-treated plastic |
Supplement |
- |
|
|