Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,der(15)t(8;15)(p21;q26)mat.arr 8p23.3p21.1(36385-28569584)x3,15q26.3(96644076-100276767)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (-)15q26>15qter |
|
Chromosome 8: DERIVATIVE CHROMOSOME Aneuploid Segment (+)8pter>8p21 |
|
Chromosome 8: DERIVATIVE CHROMOSOME Trisomic Segment 8pter>8p21 |
| Remarks |
Partial trisomy 8(p); growth retardation; dysmorphic features; skeletal abnormalities; congenital heart defect |
| 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 |
| |
| Lin MS, Zhang A, Fujimoto A, Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication. Hum Genet96(5):572-6 1995 |
| PubMed ID: 8530005 |
| |
| Jones LA, Dengler DR, Taysi K, Shackelford GD, Hartmann AF, Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. J Med Genet17:232-5 1980 |
| PubMed ID: 7401137 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|