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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Published inStem cell research Vol. 49; p. 102004
Main Authors Cristian, Flavia-Bianca, Köppel, Alexandra, Janssen, Johannes, Utikal, Jochen S., Rappold, Gudrun A., Berkel, Simone
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.12.2020
Elsevier
Online AccessGet full text
ISSN1873-5061
1876-7753
1876-7753
DOI10.1016/j.scr.2020.102004

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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.
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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2020.102004