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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| Hauptverfasser: | , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
19 September 2020
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| In: |
Stem cell research
Year: 2020, Jahrgang: 49 |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2020.102004 |
| Online-Zugang: | 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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| Verfasserangaben: | Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen S. Utikal, Gudrun A. Rappold, Simone Berkel |
| Zusammenfassung: | 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. |
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| Beschreibung: | Gesehen am 16.02.2021 |
| Beschreibung: | Online Resource |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2020.102004 |