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
oleh: Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen S. Utikal, Gudrun A. Rappold, Simone Berkel
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-12-01 |
Deskripsi
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.