Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 8
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,+8[29]/46,XX[21]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
6 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 8: ANEUPLOID Aneuploid Segment (+)8pter>8qter |
|
Chromosome 8: ANEUPLOID Trisomic Segment 8pter>8qter |
Remarks |
58% trisomy 8; mental retardation and failure to thrive |
Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE, Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance Nature communications10:4495 2019 |
PubMed ID: 31582743 |
Passage Frozen |
6 |
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 |
- |
|
|