Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,der(21)t(10;21)(q24;q22)mat.arr[hg19]10q24.32q26.3(104611715-135356682)x3,21q22.13q22.3(38324074-46921373)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.5 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10q24>10qter |
|
Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q24>10qter |
|
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21q22>21qter |
| Remarks |
Normal soluble glutamic oxaloacetic transaminase activity; maternal cousin is GM09542. |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| 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 |
| |
| Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Genomic analysis of partial 21q monosomies with variable phenotypes European journal of human genetics : EJHG19:235-8 2010 |
| PubMed ID: 20823914 |
| |
| Spritz RA, Emanuel BS, Chern CJ, Mellman WJ, Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenet Cell Genet23:149-56 1979 |
| PubMed ID: 436447 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|