Abstract：
:Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they are prone to genetic instability. Furthermore, genetically unstable iPSCs are often discarded, as they can have unforeseen consequences on pathophysiological or therapeutic read-outs. We generated iPSCs from two brothers of a previously unstudied family affected with the inherited retinal dystrophy choroideremia. We detected complex rearrangements involving chromosomes 12, 20 and/or 5 in the generated iPSCs. Suspecting an underlying chromosomal aberration, we performed karyotype analysis of the original fibroblasts, and of blood cells from additional family members. We identified a novel chromosomal translocation t(12;20)(q24.3;q11.2) segregating in this family. We determined that the translocation was balanced and did not impact subsequent retinal differentiation. We show for the first time that an undetected genetic instability in somatic cells can breed further instability upon reprogramming. Therefore, the detection of chromosomal aberrations in iPSCs should not be disregarded, as they may reveal rearrangements segregating in families. Furthermore, as such rearrangements are often associated with reproductive failure or birth defects, this in turn has important consequences for genetic counseling of family members.
journal_name
Cellsjournal_title
Cellsauthors
Erkilic N,Gatinois V,Torriano S,Bouret P,Sanjurjo-Soriano C,Luca V,Damodar K,Cereso N,Puechberty J,Sanchez-Alcudia R,Hamel CP,Ayuso C,Meunier I,Pellestor F,Kalatzis Vdoi
10.3390/cells8091068subject
Has Abstractpub_date
2019-09-11 00:00:00issue
9issn
2073-4409pii
cells8091068journal_volume
8pub_type
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