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


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

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