Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent
Summary
Two human induced pluripotent stem cell lines (hiPSC) were generated by reprogramming fibroblasts isolated from a skin biopsy taken from a female patient diagnosed with autism spectrum disorder (ASD) and intellectual disability (ID). This patient harbors a de novo 120 kb deletion in SHANK2. As controls, four lines were generated in a similar manner from fibroblasts isolated from each of her parents, two clones per parent. All reported hiPSC lines have a normal karyotype, express pluripotency markers and have the ability to differentiate into all three germ layers. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Cristian FB, Köppel A, Janssen J, Utikal JS, Rappold GA, Berkel S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102004 |
| PubMed | 33002717 |
| DOI | 10.1016/j.scr.2020.102004 |