Asset Details
Do you wish to reserve the book?
CRISPR/Cas9 and IpiggyBac/I Transposon-Based Conversion of a Pathogenic Biallelic ITBCD/I Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
CRISPR/Cas9 and IpiggyBac/I Transposon-Based Conversion of a Pathogenic Biallelic ITBCD/I Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes
Do you wish to request the book?
CRISPR/Cas9 and IpiggyBac/I Transposon-Based Conversion of a Pathogenic Biallelic ITBCD/I Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
CRISPR/Cas9 and IpiggyBac/I Transposon-Based Conversion of a Pathogenic Biallelic ITBCD/I Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes
2023
Overview
Induced pluripotent stem cells (iPSCs) have been established as a reliable in vitro disease model system and represent a particularly informative tool when animal models are not available or do not recapitulate the human pathophenotype. The recognized limit in using this technology is linked to some degree of variability in the behavior of the individual patient-derived clones. The development of CRISPR/Cas9-based gene editing solves this drawback by obtaining isogenic iPSCs in which the genetic lesion is corrected, allowing a straightforward comparison with the parental patient-derived iPSC lines. Here, we report the generation of a footprint-free isogenic cell line of patient-derived TBCD-mutated iPSCs edited using the CRISPR/Cas9 and piggyBac technologies. The corrected iPSC line had no genetic footprint after the removal of the selection cassette and maintained its \"stemness\". The correction of the disease-causing TBCD missense substitution restored proper protein levels of the chaperone and mitotic spindle organization, as well as reduced cellular death, which were used as read-outs of the TBCD KO-related endophenotype. The generated line represents an informative in vitro model to understand the impact of pathogenic TBCD mutations on nervous system development and physiology.
Publisher
MDPI AG
Subject
