Publication:
Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9

Thumbnail Image

Departments

School / College / Institute

Organizational Unit
GRADUATE SCHOOL OF HEALTH SCIENCES
Upper Org Unit

Program

KU-Authors

KU Authors

Co-Authors

Fatima, Neelam
Dillen, Lieke
Hommersom, Marina P.
Fatima, Fareeha
van Beusekom, Ellen
Albert, Silvia
Khan, Asma Ali
de Brouwer, Arjan P. M.
van Bokhoven, Hans

Publication Date

Language

Embargo Status

Journal Title

Journal ISSN

Volume Title

Alternative Title

Abstract

SGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrinmediated endocytosis along with having a role in energy homeostasis in neuronal systems. We generated an isogenic human induced pluripotent stem cell (iPSC) line with a biallelic frameshift variant in SGIP1. . This exon has been shown to be subject to alternative splicing, leading to an isoform lacking 24 amino acids that are present in the longest SGIP isoform. The newly generated iPSC line will be helpful to dissect the differential properties of the two SGIP isoforms.

Source

Publisher

Elsevier

Subject

Cell and tissue engineering, Biotechnology & applied microbiology, Cell biology

Citation

Has Part

Source

Stem Cell Research

Book Series Title

Edition

DOI

10.1016/j.scr.2024.103511

item.page.datauri

Link

Rights

Copyrights Note

Endorsement

Review

Supplemented By

Referenced By

3

Views

7

Downloads

View PlumX Details