NA21874
DNA from Fibroblast
Description:
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,del(18)(q12.1q12.3).arr 18q12.1q12.3(24173974-37080361)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
PDL at Freeze |
5.75 |
Passage Frozen |
13 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Cytogenetics |
Chromosome 18: DELETION Aneuploid Segment (-)18q12.1>18q12.3 |
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 2022 |
PubMed ID: 35039224 |
|
García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11:228-238 2020 |
PubMed ID: 32610655 |
|
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 |
|