4.2 Article

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

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STEM CELL RESEARCH
卷 49, 期 -, 页码 -

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ELSEVIER
DOI: 10.1016/j.scr.2020.102004

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  1. Department of Human Molecular Genetics of the University Hospital Heidelberg
  2. Dres. Majic/Majic-Schlez Foundation of Heidelberg University
  3. German Research Foundation (DFG) [407247919]
  4. Olympia-Morata Program of Heidelberg University

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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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