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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 contr...

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Bibliographic Details
Main Authors: Cristian, Flavia-Bianca (Author) , Köppel, Alexandra (Author) , Janssen, Johannes W. G. (Author) , Utikal, Jochen (Author) , Rappold, Gudrun (Author) , Berkel, Simone (Author)
Format: Article (Journal)
Language:English
Published: 19 September 2020
In: Stem cell research
Year: 2020, Volume: 49
ISSN:1876-7753
DOI:10.1016/j.scr.2020.102004
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.scr.2020.102004
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506120303056
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Author Notes:Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen S. Utikal, Gudrun A. Rappold, Simone Berkel
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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.
Item Description:Gesehen am 16.02.2021
Physical Description:Online Resource
ISSN:1876-7753
DOI:10.1016/j.scr.2020.102004

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