Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XX,+18[19]/46,XX,[3]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.1 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18qter |
|
Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18qter |
| Remarks |
Died at age 3 months |
| Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2022 |
| PubMed ID: 37477572 |
| |
| Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005 |
| PubMed ID: 16124865 |
| |
| Carvalho B, Ouwerkerk E, Meijer GA, Ylstra B, High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides. J Clin Pathol57(6):644-6 2004 |
| PubMed ID: 15166273 |
| |
| 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 |
| |
| Stambrook PJ, Dush MK, Trill JJ, Tischfield JA, Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. Somat Cell Mol Genet10:359-67 1984 |
| PubMed ID: 6087472 |
| |
| Chen YT, Worthy TE, Krooth RS, Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two. Somatic Cell Genet4:265-98 1978 |
| PubMed ID: 694721 |
| |
| Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976 |
| PubMed ID: 182912 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| 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 |
- |
|
|