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Digital Karyotyping for Detecting Chromosome Alterations

ABSTRACT: To establish a method for calling digital karyotypes using the Illumina HumanCoreExome BeadChip, we calculated the percent of cells within a population that were required to detect a chromosome alteration. We performed serial dilutions of an iPSC line with Trisomy 12, 13, 14, 17, 20, and XXY and a genetically matched clone. Dilutions were at 0, 6.25, 12.5, 25 and 50% abnormal cells.

ORGANISM(S): Homo sapiens

SUBMITTER: Kelly Frazer

PROVIDER: E-MTAB-5587 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells.

D'Antonio Matteo M Woodruff Grace G Nathanson Jason L JL D'Antonio-Chronowska Agnieszka A Arias Angelo A Matsui Hiroko H Williams Roy R Herrera Cheryl C Reyna Sol M SM Yeo Gene W GW Goldstein Lawrence S B LSB Panopoulos Athanasia D AD Frazer Kelly A KA

Stem cell reports 20170401 4

Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes. To date, studies have been published that use small panels of iPSC-derived cell lines to study monogenic diseases. However, to study complex diseases, where the genetic variation underlying the disorder is unknown, a sizable number of patient-specific ...[more]

PMID: 28410643

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