NA20912
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Vein, umbilical
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Umbilical Cord
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XY,+18[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.4 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment 18pter>18qter (+)18pter>18qter |
| Remarks |
Elevated alphafetoprotein (55.18ug/ml); omphalocele; lumbar spina bifida; intrauterine growth retardation; bilateral ventriculomegaly; micrognathia; overlapping fingers and prominent heels |
| Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020 |
| PubMed ID: 34330281 |
|