Literature DB >> 33002717

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.

Flavia-Bianca Cristian1, Alexandra Köppel1, Johannes Janssen1, Jochen S Utikal2, Gudrun A Rappold1, Simone Berkel3.   

Abstract

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.
Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

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Year:  2020        PMID: 33002717     DOI: 10.1016/j.scr.2020.102004

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  1 in total

1.  Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier.

Authors:  K Klaassen; M Djordjevic; A Skakic; B Kecman; R Drmanac; S Pavlovic; M Stojiljkovic
Journal:  Mol Genet Metab Rep       Date:  2021-11-19
  1 in total

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